Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R241P
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MYO7A

NM_000260.4:p.R241P

Associated Papers

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.

Romo-Aguas JC et al.

Investigative Ophthalmology & Visual Science, 2025

40257781 (PubMed )
Supplement: iovs-66-4-60_s002.xlsx › Genetic_results

Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.

Whatley M et al.

Frontiers in Genetics, 2020

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Lenassi E et al.

Ophthalmology, 2014

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P et al.

Journal of Medical Genetics, 2012

Naturally occurring animal models with outer retina phenotypes.

Baehr W et al.

Vision Research, 2009

Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells.

El-Amraoui A et al.

Journal of Cell Science, 2005

Unconventional myosins and the genetics of hearing loss.

Friedman TB et al.

American Journal of Medical Genetics, 1999

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

Liu XZ et al.

Nature Genetics, 1997

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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."