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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA1

Variant:p.L513P

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EYA1

NM_000503.6:p.L513P

hg38:chr8:71215446 A>G

Associated Papers

Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.

Wilson PC et al.

Kidney360, 2020

35372954 (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."