Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.A484V
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TMC1

NM_138691.3:p.A484V

Associated Papers

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6.

Mitchem KL et al.

Human Molecular Genetics, 2002

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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."