Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R241S
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MYO7A

NM_000260.4:p.R241S

Associated Papers

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Inner ear morphology is perturbed in two novel mouse models of recessive deafness.

Miller KA et al.

Plos One, 2012

Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan.

Su MC et al.

International Journal of Pediatric Otorhinolaryngology, 2009

The molecular genetics of Usher syndrome.

Ahmed ZM et al.

Clinical Genetics, 2003

Unconventional myosins and the genetics of hearing loss.

Friedman TB et al.

American Journal of Medical Genetics, 1999

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

Janecke AR et al.

Human Mutation, 1999

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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."