Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.F571F
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TMC1

NM_138691.3:p.F571F

Associated Papers

Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China.

Jiang Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1.

Kitajiri S 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."