Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V91fs
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GJB2

NM_004004.6:p.V91fs

Associated Papers

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

41659036 (PubMed )
Supplement: DataSheet1.pdf

Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.

Le Nabec A et al.

Genes, 2021

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

García-García G et al.

Genes, 2020

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

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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."