Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.M34V
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GJB6

NM_001110219.3:p.M34V

Associated Papers

GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.

Koohiyan M et al.

Annals of Human Genetics, 2020

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31160754 (PubMed )
Supplement: NIHMS1586971-supplement-Supplementary___Appendix__online_only_material__etc__.docx

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Koohiyan M et al.

International Journal of Pediatric Otorhinolaryngology, 2018

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.

Hashemi SB et al.

Molecular Biology Reports, 2012

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 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."