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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.N494S

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EYA1

NM_000503.6:p.N494S

hg38:chr8:71215503 T>C

Associated Papers

Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.

Chen A et al.

Clinical Genetics, 2021

33624842 (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."