Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L36P
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GJB1

NM_000166.6:p.L36P

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P et al.

Journal of Human Genetics, 2008

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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."