Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.Y381N
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TMC1

NM_138691.3:p.Y381N

Associated Papers

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.

Cho SH et al.

Bmc Medical Genomics, 2023

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Nishio SY et al.

Human Genetics, 2022

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

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Likar T et al.

Plos One, 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."