PubMed:17059986 / 584-900 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"17059986_0","span":{"begin":124,"end":168},"obj":"ProteinMutation"},{"id":"17059986_1","span":{"begin":170,"end":181},"obj":"ProteinMutation"}],"attributes":[{"id":"17059986_0_ProteinMutation","pred":"proteinmutation","subj":"17059986_0","obj":"rs148038173"},{"id":"17059986_1_ProteinMutation","pred":"proteinmutation","subj":"17059986_1","obj":"rs148038173"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-sentences","denotations":[{"id":"T5","span":{"begin":0,"end":316},"obj":"Sentence"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-entities","denotations":[{"id":"3545","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"},{"id":"3546","span":{"begin":124,"end":168},"obj":"SequenceVariant"},{"id":"3547","span":{"begin":170,"end":181},"obj":"SequenceVariant"},{"id":"3548","span":{"begin":195,"end":214},"obj":"SequenceVariant"},{"id":"3549","span":{"begin":262,"end":273},"obj":"SequenceVariant"},{"id":"3550","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A16","pred":"db_id","subj":"3545","obj":"NCBIGene:6559"},{"id":"A17","pred":"db_id","subj":"3546","obj":"DBSNP:rs148038173"},{"id":"A18","pred":"db_id","subj":"3547","obj":"DBSNP:rs148038173"},{"id":"A19","pred":"db_id","subj":"3548","obj":"c|SUB|G||C"},{"id":"A20","pred":"db_id","subj":"3549","obj":"c|SUB|G|2633+1|C"},{"id":"A21","pred":"db_id","subj":"3550","obj":"MESH:D053579"}],"namespaces":[{"prefix":"_base","uri":"https://w3id.org/biolink/vocab/"},{"prefix":"MESH","uri":"http://id.nlm.nih.gov/mesh/"},{"prefix":"NCBITaxon","uri":"https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id="},{"prefix":"NCBIGene","uri":"https://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"OMIM","uri":"https://www.omim.org/entry/"},{"prefix":"DBSNP","uri":"https://www.ncbi.nlm.nih.gov/snp/"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":170,"end":181},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":262,"end":273},"obj":"SequenceVariant"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T12","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":145,"end":155},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":189,"end":194},"obj":"GeneOrGeneProduct"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T20","span":{"begin":9,"end":17},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":84,"end":93},"obj":"GeneOrGeneProduct"},{"id":"T22","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"},{"id":"T23","span":{"begin":145,"end":155},"obj":"GeneOrGeneProduct"},{"id":"T24","span":{"begin":189,"end":194},"obj":"GeneOrGeneProduct"},{"id":"T25","span":{"begin":236,"end":242},"obj":"GeneOrGeneProduct"},{"id":"T26","span":{"begin":313,"end":315},"obj":"GeneOrGeneProduct"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T12","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A12","pred":"originalLabel","subj":"T12","obj":"D053579"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T2","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T14","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"mondo_id","subj":"T14","obj":"0005773"},{"id":"A15","pred":"mondo_id","subj":"T14","obj":"0009904"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T14","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"ID:","subj":"T14","obj":"D053579"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T14","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A14","pred":"#label","subj":"T14","obj":"D053579"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T1","span":{"begin":124,"end":130},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":134,"end":141},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":195,"end":202},"obj":"ChemicalEntity"},{"id":"T5","span":{"begin":206,"end":214},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_17822"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_25017"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D006147"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D003596"},{"id":"A6","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_16040"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T5","span":{"begin":206,"end":214},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":195,"end":202},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":134,"end":141},"obj":"ChemicalEntity"},{"id":"T1","span":{"begin":124,"end":130},"obj":"ChemicalEntity"},{"id":"T36179","span":{"begin":97,"end":104},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":313,"end":315},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T33809","span":{"begin":262,"end":273},"obj":"SequenceVariant"},{"id":"T51166","span":{"begin":170,"end":181},"obj":"SequenceVariant"}],"attributes":[{"id":"A6","pred":"ID:","subj":"T5","obj":"http://purl.obolibrary.org/obo/CHEBI_16040"},{"id":"A5","pred":"ID:","subj":"T5","obj":"D003596"},{"id":"A4","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_16235"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D006147"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_25017"},{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_17822"},{"id":"A14","pred":"#label","subj":"T14","obj":"D053579"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T5","span":{"begin":0,"end":316},"obj":"Sentence"},{"id":"T5","span":{"begin":0,"end":316},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"17059986-4#170#181#geners148038173","span":{"begin":170,"end":181},"obj":"geners148038173"},{"id":"17059986-4#313#315#diseaseC0268450","span":{"begin":313,"end":315},"obj":"diseaseC0268450"}],"relations":[{"id":"170#181#geners148038173313#315#diseaseC0268450","pred":"associated_with","subj":"17059986-4#170#181#geners148038173","obj":"17059986-4#313#315#diseaseC0268450"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":170,"end":181},"obj":"ProteinMutation:p|SUB|S|555|L"},{"id":"T2","span":{"begin":262,"end":273},"obj":"DNAMutation:c|SUB|G|2633+1|C"}],"text":"However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G\u003eC), providing the molecular diagnosis of GS."}