Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R216fs
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GJB2

NM_004004.6:p.R216fs

Associated Papers

Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.

Reinoso-Castillo A et al.

Biochemical Genetics, 2026

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 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."