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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41

Variant:p.C39Y

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EPB41

NM_001376013.1:p.C39Y

hg38:chr1:28987553 G>A

Associated Papers

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Hovland HN et al.

Genes, 2023

36833189 (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."