PubMed:17033974 / 642-848 JSONTXT

{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T2","span":{"begin":83,"end":98},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"D009755"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"TEST-OrganismTaxon","denotations":[{"id":"T4","span":{"begin":37,"end":45},"obj":"OrganismTaxon"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":183,"end":188},"obj":"SequenceVariant"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T11","span":{"begin":197,"end":205},"obj":"GeneOrGeneProduct"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"Test-merged","denotations":[{"id":"T2","span":{"begin":83,"end":98},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13510","span":{"begin":37,"end":45},"obj":"OrganismTaxon"},{"id":"T11","span":{"begin":197,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T84447","span":{"begin":183,"end":188},"obj":"SequenceVariant"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"D009755"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"Test-merged-2","denotations":[{"id":"T84447","span":{"begin":183,"end":188},"obj":"SequenceVariant"},{"id":"T11","span":{"begin":197,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T13510","span":{"begin":37,"end":45},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":83,"end":98},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"D009755"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T6","span":{"begin":0,"end":206},"obj":"Sentence"},{"id":"T6","span":{"begin":0,"end":206},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"PubmedHPO","denotations":[{"id":"T3","span":{"begin":83,"end":98},"obj":"HP_0000662"},{"id":"T4","span":{"begin":89,"end":98},"obj":"HP_0000618"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17033974-5#197#205#gene93589","span":{"begin":197,"end":205},"obj":"gene93589"},{"id":"17033974-5#83#98#diseaseC0028077","span":{"begin":83,"end":98},"obj":"diseaseC0028077"}],"relations":[{"id":"197#205#gene9358983#98#diseaseC0028077","pred":"associated_with","subj":"17033974-5#197#205#gene93589","obj":"17033974-5#83#98#diseaseC0028077"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":89,"end":98},"obj":"HP:0000618"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":181,"end":192},"obj":"DNAMutation:c|SUB|C|2406|A"}],"text":"We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C--\u003eA) in CACNA2D4."}