Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P132L
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MYO7A

NM_000260.4:p.P132L

Associated Papers

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.

Riahi Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf

Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.

Galbis-Martínez L et al.

Acta Ophthalmologica, 2021

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Sodi A et al.

Molecular Vision, 2014

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Jaijo T et al.

Journal of Medical Genetics, 2007

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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."