Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.H100delFs
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GJB2

NM_004004.6:p.H100delFs

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.

Ma Z et al.

Scientific Reports, 2024

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

Xin F et al.

Journal of Translational Medicine, 2013

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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."