Varaico: Literature-Extracted Genetic Variants

Gene:EPS8
Variant:p.W420*
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EPS8

NM_004447.6:p.W420*

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

EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review.

Abbasi Z et al.

Human Genome Variation, 2023

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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."