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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASQ2

Variant:p.V76A

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CASQ2

NM_001232.4:p.V76A

hg38:chr1:115768315 A>G

Associated Papers

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )

Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

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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."