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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASQ1

Variant:p.E257K

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CASQ1

NM_001231.5:p.E257K

hg38:chr1:160196014 G>A

Associated Papers

Genome instability in blood cells of a BRCA1+ breast cancer family.

Xiao F et al.

Bmc Cancer, 2014

24884718 (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."