Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.L56delFs
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CALHM3

NM_001129742.2:p.L56delFs

Associated Papers

A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.

Martines F et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP et al.

International Journal of Pediatric Otorhinolaryngology, 2010

Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

Kenna MA et al.

Archives of Otolaryngology--head & Neck Surgery, 2010

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

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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."