Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.Y565_P566Splc
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TMC1

NM_138691.3:p.Y565_P566Splc

Associated Papers

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Ramzan K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.

Umair M et al.

Journal of Genetics, 2017

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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."