Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.K613_V614Splc
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ACTN2

NM_001103.4:p.K613_V614Splc

Associated Papers

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

36116040 (PubMed )
Supplement: HUMU-43-1745-s002.xlsx › Sheet2

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Cirino AL et al.

Circulation. Cardiovascular Genetics, 2017

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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."