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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPS8L2

Variant:p.T119_Q121insFs

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EPS8L2

NM_022772.4:p.T119_Q121insFs

hg38:chr11:720624 A>ACGGTG

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

41578500 (PubMed )

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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."