Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A148P
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GJB2

NM_004004.6:p.A148P

Associated Papers

Founder Variants of the Turkish.

Kablan A

Clinical Genetics, 2026

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

Snoeckx RL et al.

Human Mutation, 2005

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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."