Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.M34I
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GJB6

NM_001110219.3:p.M34I

Associated Papers

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 and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

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