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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPN1

Variant:p.L31_V32delFs

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CPN1

NM_001308.3:p.L31_V32delFs

hg38:chr10:100081529 GCA>G

Associated Papers

Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.

Robyns T et al.

Acta Cardiologica, 2020

31583969 (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."