PubMed:20106987 / 296-495
Annnotations
sentences
{"project":"sentences","denotations":[{"id":"T3","span":{"begin":0,"end":199},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Although the majority of the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessive structural mutations in the COL6A2 C-globular region are emerging also."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T6","span":{"begin":39,"end":43},"obj":"Disease"}],"attributes":[{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0000355"}],"text":"Although the majority of the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessive structural mutations in the COL6A2 C-globular region are emerging also."}