Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.I34T
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GJA1

NM_000165.5:p.I34T

Associated Papers

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

Kelley PM et al.

American Journal of Human Genetics, 1998

A comment on the analysis of families with prelinqual deafness.

Kimberling S et al.

American Journal of Human Genetics, 1989

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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."