PubMed:16849419 / 1002-1158 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T13","span":{"begin":0,"end":156},"obj":"Sentence"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-entities","denotations":[{"id":"3261","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3262","span":{"begin":69,"end":83},"obj":"SequenceVariant"},{"id":"3263","span":{"begin":103,"end":109},"obj":"SequenceVariant"}],"attributes":[{"id":"A20","pred":"db_id","subj":"3261","obj":"MESH:C562793"},{"id":"A21","pred":"db_id","subj":"3262","obj":"c|DEL||85"},{"id":"A22","pred":"db_id","subj":"3263","obj":"c|SUB|G||A"}],"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":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T2","span":{"begin":69,"end":83},"obj":"SequenceVariant"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T18","span":{"begin":29,"end":33},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":130,"end":134},"obj":"GeneOrGeneProduct"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T13","span":{"begin":29,"end":33},"obj":"GeneOrGeneProduct"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T10","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A10","pred":"originalLabel","subj":"T10","obj":"D053565"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T10","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A10","pred":"mondo_id","subj":"T10","obj":"0009431"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T11","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"ID:","subj":"T11","obj":"D053565"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T11","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"#label","subj":"T11","obj":"D053565"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T11","span":{"begin":29,"end":33},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T81030","span":{"begin":69,"end":83},"obj":"SequenceVariant"}],"attributes":[{"id":"A11","pred":"#label","subj":"T11","obj":"D053565"}],"text":"An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7."}