Varaico: Literature-Extracted Genetic Variants

Gene:EPS8
Variant:p.E68_H69Splc
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EPS8

NM_004447.6:p.E68_H69Splc

Associated Papers

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

Abbasi Z et al.

Human Genome Variation, 2023

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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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."