Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.R1168Splc
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MYO7A

NM_000260.4:p.R1168Splc

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

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

Lenassi E et al.

Ophthalmology, 2014

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2013

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

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM et al.

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."