Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.F145delFs
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GJB1

NM_000166.6:p.F145delFs

Associated Papers

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J et al.

Molecular Genetics & Genomic Medicine, 2019

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."