Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L90Q
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GJB2

NM_004004.6:p.L90Q

Associated Papers

Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.

Glotov AS et al.

Genes, 2025

41595422 (PubMed )
Supplement: genes-17-00003-s001.zip › genes-4033716-supplementary.pdf

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

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria.

Günther B et al.

Human Mutation, 2003

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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."