Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.Q2017_E2018Splc
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MYO7A

NM_000260.4:p.Q2017_E2018Splc

Associated Papers

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Kang H et al.

European Journal of Human Genetics : Ejhg, 2025

40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

Liu F et al.

Molecular Vision, 2013

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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."