Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.D67H
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GJA3

NM_021954.4:p.D67H

Associated Papers

Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study.

Venkata Subbiah H et al.

Journal, Genetic Engineering & Biotechnology, 2022

Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.

Hassan AY et al.

International Journal of Molecular Sciences, 2021

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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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."