Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.D397N
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TMC1

NM_138691.3:p.D397N

Associated Papers

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Xiang J et al.

Bmc Medical Genomics, 2022

35761346 (PubMed )
Supplement: 12920_2022_1293_MOESM3_ESM.xlsx › Table_S2

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2
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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."