Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.R96Splc
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CALHM3

NM_001129742.2:p.R96Splc

Associated Papers

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

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."