Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.D233Splc
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ACTN2

NM_001103.4:p.D233Splc

Associated Papers

Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy.

Prondzynski M et al.

Embo Molecular Medicine, 2022

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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."