Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.L592fs
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EYA1

NM_000503.6:p.L592fs

Associated Papers

[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].

Shao H et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
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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."