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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CALR3

Variant:p.R278C

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CALR3

NM_145046.5:p.R278C

hg38:chr19:16482536 G>A

Associated Papers

Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.

Hu LR et al.

Science Advances, 2017

28630914 (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."