PubMed:19394258 / 384-603 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T4","span":{"begin":0,"end":219},"obj":"Sentence"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-entities","denotations":[{"id":"6026","span":{"begin":9,"end":14},"obj":"GeneOrGeneProduct"},{"id":"6027","span":{"begin":36,"end":47},"obj":"SequenceVariant"},{"id":"6028","span":{"begin":73,"end":81},"obj":"OrganismTaxon"},{"id":"6029","span":{"begin":143,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"6030","span":{"begin":178,"end":205},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A8","pred":"db_id","subj":"6026","obj":"NCBIGene:1716"},{"id":"A9","pred":"db_id","subj":"6027","obj":"c|SUB|C|444-62|A"},{"id":"A10","pred":"db_id","subj":"6028","obj":"NCBITaxon:9606"},{"id":"A11","pred":"db_id","subj":"6029","obj":"MESH:D028361"},{"id":"A12","pred":"db_id","subj":"6030","obj":"MESH:C580039"}],"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":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":36,"end":47},"obj":"SequenceVariant"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T14","span":{"begin":9,"end":14},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":26,"end":34},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":178,"end":191},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":196,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":213,"end":218},"obj":"GeneOrGeneProduct"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T9","span":{"begin":9,"end":14},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":155,"end":160},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":178,"end":191},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":213,"end":218},"obj":"GeneOrGeneProduct"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T3","span":{"begin":143,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":178,"end":205},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D028361"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"DISEASE"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T6","span":{"begin":9,"end":14},"obj":"GeneOrGeneProduct"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T4","span":{"begin":143,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":178,"end":205},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A4","pred":"ID:","subj":"T4","obj":"D028361"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T4","span":{"begin":143,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":178,"end":205},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A4","pred":"#label","subj":"T4","obj":"D028361"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T2","span":{"begin":73,"end":81},"obj":"OrganismTaxon"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"LitCoin-training-merged","denotations":[{"id":"T6","span":{"begin":9,"end":14},"obj":"GeneOrGeneProduct"},{"id":"T99729","span":{"begin":178,"end":205},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T1799","span":{"begin":143,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T73141","span":{"begin":73,"end":81},"obj":"OrganismTaxon"},{"id":"T3536","span":{"begin":36,"end":47},"obj":"SequenceVariant"}],"attributes":[{"id":"A18792","pred":"#label","subj":"T99729","obj":"DISEASE"},{"id":"A90775","pred":"#label","subj":"T1799","obj":"D028361"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":9,"end":14},"obj":"gene:1716"},{"id":"T3","span":{"begin":178,"end":205},"obj":"disease:C0342782"},{"id":"T4","span":{"begin":9,"end":14},"obj":"gene:1716"},{"id":"T5","span":{"begin":143,"end":173},"obj":"disease:C0949857"}],"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":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19394258-3#9#14#gene1716","span":{"begin":9,"end":14},"obj":"gene1716"},{"id":"19394258-3#143#173#diseaseC0949857","span":{"begin":143,"end":173},"obj":"diseaseC0949857"},{"id":"19394258-3#178#205#diseaseC0342782","span":{"begin":178,"end":205},"obj":"diseaseC0342782"}],"relations":[{"id":"9#14#gene1716143#173#diseaseC0949857","pred":"associated_with","subj":"19394258-3#9#14#gene1716","obj":"19394258-3#143#173#diseaseC0949857"},{"id":"9#14#gene1716178#205#diseaseC0342782","pred":"associated_with","subj":"19394258-3#9#14#gene1716","obj":"19394258-3#178#205#diseaseC0342782"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":36,"end":47},"obj":"DNAMutation:c|SUB|C|444-62|A"}],"text":"This new DGUOK homozygous mutation (c.444-62C\u003eA) was identified in three patients from two North-African consanguineous families with combined respiratory chain deficiencies and mitochondrial DNA depletion in the liver."}