PubMed:20106987 / 564-708 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"20106987_0","span":{"begin":39,"end":44},"obj":"ProteinMutation"}],"attributes":[{"id":"20106987_0_ProteinMutation","pred":"proteinmutation","subj":"20106987_0","obj":"rs387906607"}],"text":"Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients."}

{"project":"sentences","denotations":[{"id":"T5","span":{"begin":0,"end":144},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients."}

{"project":"DisGeNET","denotations":[{"id":"T2","span":{"begin":32,"end":38},"obj":"gene:1292"},{"id":"T3","span":{"begin":130,"end":134},"obj":"disease:C0410179"},{"id":"T4","span":{"begin":86,"end":92},"obj":"gene:1292"},{"id":"T5","span":{"begin":130,"end":134},"obj":"disease:C0410179"}],"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":"Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"20106987-4#39#44#geners387906607","span":{"begin":39,"end":44},"obj":"geners387906607"},{"id":"20106987-4#93#98#geners387906608","span":{"begin":93,"end":98},"obj":"geners387906608"},{"id":"20106987-4#130#134#diseaseC0410179","span":{"begin":130,"end":134},"obj":"diseaseC0410179"}],"relations":[{"id":"39#44#geners387906607130#134#diseaseC0410179","pred":"associated_with","subj":"20106987-4#39#44#geners387906607","obj":"20106987-4#130#134#diseaseC0410179"},{"id":"93#98#geners387906608130#134#diseaseC0410179","pred":"associated_with","subj":"20106987-4#93#98#geners387906608","obj":"20106987-4#130#134#diseaseC0410179"}],"text":"Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients."}

{"project":"mondo_disease","denotations":[{"id":"T7","span":{"begin":130,"end":134},"obj":"Disease"}],"attributes":[{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0000355"}],"text":"Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients."}