Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.V37L
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GJB6

NM_001110219.3:p.V37L

Associated Papers

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

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
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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."