Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.E408_M409Splc
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TMC1

NM_138691.3:p.E408_M409Splc

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

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.

Boudewyns A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2018

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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."