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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAPN2

Variant:p.S586S

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CAPN2

NM_001748.5:p.S586S

hg38:chr1:223769843 G>A

Associated Papers

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.

Blue EE et al.

Hgg Advances, 2023

37663545 (PubMed )

Supplement: mmc3.xlsx › CAPN2

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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."