Varaico: Literature-Extracted Genetic Variants

Gene:TMC2
Variant:p.R34*
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TMC2

NM_080751.3:p.R34*

Associated Papers

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

Gene symbol: TMC1. Disease: Deafness.

Hilgert N

Human Genetics, 2008

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N et al.

Clinical Genetics, 2008

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI et al.

Clinical Genetics, 2007

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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."