PubMed:10419498 / 1785-2007 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T4","span":{"begin":213,"end":221},"obj":"HP_0003198"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}

{"project":"PubCasesHPO","denotations":[{"id":"AB3","span":{"begin":213,"end":221},"obj":"HP:0003198"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}

{"project":"PubCasesORDO","denotations":[{"id":"AB3","span":{"begin":205,"end":221},"obj":"ORDO:610"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T11","span":{"begin":0,"end":222},"obj":"Sentence"},{"id":"T11","span":{"begin":0,"end":222},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}

{"project":"HP-phenotype","denotations":[{"id":"T4","span":{"begin":213,"end":221},"obj":"Phenotype"}],"attributes":[{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0003198"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}

{"project":"mondo_disease","denotations":[{"id":"T7","span":{"begin":205,"end":221},"obj":"Disease"}],"attributes":[{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0008029"},{"id":"A8","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0024530"}],"text":"These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy."}