Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.T300M
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ACTN2

NM_001103.4:p.T300M

Associated Papers

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Sambuughin N et al.

International Journal of Molecular Sciences, 2024

39457051 (PubMed )
Supplement: ijms-25-11269-s001.zip › Supplemental_Tables_S1-S3.xlsx › Table_S3

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3
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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."