Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.W172fs
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GJB2

NM_004004.6:p.W172fs

Associated Papers

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

Bi Q et al.

Journal of Assisted Reproduction and Genetics, 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-1586971_SuppTable2.xlsx › SupplementaryTable2
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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."