Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E292D
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BRCA2

NM_000059.4:p.E292D

Associated Papers

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.

Horinouchi T et al.

Molecular Genetics & Genomic Medicine, 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."