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PubMed:23924083 / 175-232 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T1 0-57 disease:C2748572 denotes epilepsy, ataxia, sensorineural deafness, and tubulopathy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 10-16 HP_0001251 denotes ataxia
T2 18-40 HP_0000407 denotes sensorineural deafness
T3 32-40 HP_0000365 denotes deafness

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23924083-1#81#138#diseaseC2748572 0-57 diseaseC2748572 denotes epilepsy, ataxia, sensorineural deafness, and tubulopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 10-16 HP:0001251 denotes ataxia