Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.V56delFs
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CAT

NM_001752.4:p.V56delFs

Associated Papers

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US et al.

International Journal of Molecular Epidemiology and Genetics, 2014

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A et al.

American Journal of Medical Genetics. Part A, 2007

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

Huculak C et al.

American Journal of Medical Genetics. Part A, 2006

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

Lerer I 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."