Varaico: Literature-Extracted Genetic Variants

Gene:EYA1
Variant:p.G454Splc
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EYA1

NM_000503.6:p.G454Splc

Associated Papers

Clinical utility of genetic testing in Indian children with kidney diseases.

Saha A et al.

Bmc Nephrology, 2023

5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.

Lin JH et al.

Human Mutation, 2020

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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."