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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKP2

Variant:p.R563S

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PKP2

NM_004572.4:p.R563S

hg38:chr12:32824162 T>A

Associated Papers

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Blancard M et al.

Scientific Reports, 2018

30279520 (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."