Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.D572A
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TMC1

NM_138691.3:p.D572A

Associated Papers

Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.

Yu X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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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."