Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.T163T
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GSDME

NM_001127453.2:p.T163T

Associated Papers

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.

Zhu YM et al.

Frontiers in Cell and Developmental Biology, 2021

34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5

A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.

Nishio A et al.

Annals of Human Genetics, 2014

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Park HJ et al.

Journal of Human Genetics, 2010

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