Varaico: Literature-Extracted Genetic Variants

Gene:EPS8L2
Variant:p.P338delFs
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EPS8L2

NM_022772.4:p.P338delFs

Associated Papers

Identification and phased de novo mutation of the EPS8L2 gene in a patient with progressive hearing loss: A case report.

Gan H et al.

Medicine, 2026

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.

Owrang D et al.

Molecular Neurobiology, 2026

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Dahmani M et al.

Orphanet Journal of Rare Diseases, 2015

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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."