Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L79delFs
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C2

NM_000063.6:p.L79delFs

Associated Papers

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.

Chai Y et al.

American Journal of Medical Genetics. Part A, 2014

Autosomal recessive nonsyndromic deafness genes: a review.

Duman D et al.

Frontiers in Bioscience (landmark Edition), 2012

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 2009

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

Kudo T et al.

American Journal of Medical Genetics, 2000

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."