PubMed:20143913 / 133-342 JSONTXT

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    LitCoin-sentences

    {"project":"LitCoin-sentences","denotations":[{"id":"T2","span":{"begin":0,"end":209},"obj":"Sentence"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-entities

    {"project":"LitCoin-entities","denotations":[{"id":"7101","span":{"begin":39,"end":46},"obj":"SequenceVariant"},{"id":"7102","span":{"begin":72,"end":87},"obj":"GeneOrGeneProduct"},{"id":"7103","span":{"begin":89,"end":93},"obj":"GeneOrGeneProduct"},{"id":"7104","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"},{"id":"7105","span":{"begin":135,"end":142},"obj":"OrganismTaxon"}],"attributes":[{"id":"A4","pred":"db_id","subj":"7101","obj":"p|SUB|R|315|X"},{"id":"A5","pred":"db_id","subj":"7102","obj":"NCBIGene:411"},{"id":"A6","pred":"db_id","subj":"7103","obj":"NCBIGene:411"},{"id":"A7","pred":"db_id","subj":"7104","obj":"MESH:D009087"},{"id":"A8","pred":"db_id","subj":"7105","obj":"NCBITaxon:9606"}],"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":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin_Mondo

    {"project":"LitCoin_Mondo","denotations":[{"id":"T2","span":{"begin":105,"end":126},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0019249"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-SeqVar

    {"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":39,"end":46},"obj":"SequenceVariant"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-GeneOrGeneProduct-v0

    {"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T4","span":{"begin":30,"end":38},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":72,"end":87},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":89,"end":93},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":95,"end":104},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":179,"end":186},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":200,"end":208},"obj":"GeneOrGeneProduct"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-GeneOrGeneProduct-v2

    {"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T3","span":{"begin":72,"end":87},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":89,"end":93},"obj":"GeneOrGeneProduct"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-Disease-MeSH

    {"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T2","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D009087"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-GeneOrGeneProduct-v3

    {"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T2","span":{"begin":72,"end":87},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":89,"end":93},"obj":"GeneOrGeneProduct"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin_Mondo_095

    {"project":"LitCoin_Mondo_095","denotations":[{"id":"T2","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0009661"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-MeSH-Disease-2

    {"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T2","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"ID:","subj":"T2","obj":"D009087"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-MONDO_bioort2019

    {"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T2","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"D009087"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-NCBITaxon-2

    {"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T2","span":{"begin":135,"end":142},"obj":"OrganismTaxon"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-Chemical-MeSH-CHEBI

    {"project":"LitCoin-Chemical-MeSH-CHEBI","denotations":[{"id":"T2","span":{"begin":72,"end":87},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":89,"end":93},"obj":"ChemicalEntity"}],"attributes":[{"id":"A2","pred":"ID:","subj":"T2","obj":"D020051"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D020051"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    LitCoin-training-merged

    {"project":"LitCoin-training-merged","denotations":[{"id":"T3","span":{"begin":89,"end":93},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":72,"end":87},"obj":"ChemicalEntity"},{"id":"T46094","span":{"begin":89,"end":93},"obj":"GeneOrGeneProduct"},{"id":"T22214","span":{"begin":72,"end":87},"obj":"GeneOrGeneProduct"},{"id":"T95114","span":{"begin":105,"end":134},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11111","span":{"begin":135,"end":142},"obj":"OrganismTaxon"},{"id":"T47921","span":{"begin":39,"end":46},"obj":"SequenceVariant"}],"attributes":[{"id":"A3","pred":"ID:","subj":"T3","obj":"D020051"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D020051"},{"id":"A77747","pred":"#label","subj":"T95114","obj":"D009087"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    sentences

    {"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":209},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":209},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":72,"end":87},"obj":"gene:411"},{"id":"T3","span":{"begin":105,"end":134},"obj":"disease:C0026709"},{"id":"T4","span":{"begin":89,"end":93},"obj":"gene:411"},{"id":"T5","span":{"begin":105,"end":134},"obj":"disease:C0026709"}],"relations":[{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    PubmedHPO

    {"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":105,"end":126},"obj":"HP_0008155"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    Allie

    {"project":"Allie","denotations":[{"id":"SS1_20143913_1_0","span":{"begin":72,"end":87},"obj":"expanded"},{"id":"SS2_20143913_1_0","span":{"begin":89,"end":93},"obj":"abbr"}],"relations":[{"id":"AE1_20143913_1_0","pred":"abbreviatedTo","subj":"SS1_20143913_1_0","obj":"SS2_20143913_1_0"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    PubCasesORDO

    {"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":105,"end":134},"obj":"ORDO:583"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}

    tmVarCorpus

    {"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":39,"end":46},"obj":"ProteinMutation:p|SUB|R|315|X"}],"text":"Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation."}