Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.C12delFs
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F2

NM_000506.5:p.C12delFs

Associated Papers

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.

Li Q et al.

Cellular and Molecular Life Sciences : Cmls, 2023

37178259 (PubMed )
Supplement: 18_2023_4794_MOESM1_ESM.docx

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E et al.

Journal of Clinical Laboratory Analysis, 2021

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Tekin M et al.

Annals of Human Genetics, 2010

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J et al.

American Journal of Medical Genetics. Part A, 2007

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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."