Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.R76H
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CCDC50

NM_178335.3:p.R76H

Associated Papers

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants.

Lachgar-Ruiz M et al.

Disease Models & Mechanisms, 2023

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Frohne A et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."