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PedAM

Pediatric Disease Annotations & Medicines




Disease albinism
Phenotype C0018784|sensorineural deafness
Sentences 2
PubMedID- 26070712 Tbl1 was originally cloned in relationship to an x-linked human disorder, ocular albinism with late-onset sensorineural deafness (oasd), in which deletion of tbl1 was suggested to be responsible for the hearing defect (bassi et al, 1999).
PubMedID- 22666340 Transducin beta-like protein 1 (tbl1) is a candidate gene for ocular albinism with late-onset sensorineural deafness, a form of x-linked age-related hearing loss.

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