Varaico: Literature-Extracted Genetic Variants

Gene:EPS8
Variant:p.Q30*
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EPS8

NM_004447.6:p.Q30*

Associated Papers

Liquid-Liquid Phase Separation in Hereditary Hearing Loss.

Tao K et al.

Neuroscience Bulletin, 2025

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

Abbasi Z et al.

Human Genome Variation, 2023

Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.

D'Aguillo C et al.

International Journal of Audiology, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.

Behlouli A et al.

Orphanet Journal of Rare Diseases, 2014

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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."