PubMed:10419498 / 1785-2007 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T4 213-221 HP_0003198 denotes myopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB3 213-221 HP:0003198 denotes myopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB3 205-221 ORDO:610 denotes Bethlem myopathy

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T11 0-222 Sentence denotes 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.
T11 0-222 Sentence denotes 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.

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T4 213-221 Phenotype denotes myopathy HP:0003198

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T7 205-221 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530