PubMed:10419498 / 0-241 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10419498-1#79#85#gene1293","span":{"begin":211,"end":217},"obj":"gene1293"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"PubCasesHPO","denotations":[{"id":"TI1","span":{"begin":8,"end":16},"obj":"HP:0003198"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":0,"end":16},"obj":"ORDO:610"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":131},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":131},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":8,"end":16},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0003198"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":0,"end":16},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0008029"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0024530"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":77,"end":90},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/GO_0005622"}],"text":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.\nMutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the a"}