Varaico: Literature-Extracted Genetic Variants

Gene:THOC6
Variant:p.D147H
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THOC6

NM_024339.5:p.D147H

Associated Papers

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU et al.

American Journal of Human Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."