Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.M285K
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ACTC1

NM_005159.5:p.M285K

Associated Papers

Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.

Voinescu OR et al.

International Journal of Molecular Sciences, 2024

Structural and functional analysis of actin point mutations leading to nemaline myopathy to elucidate their role in actin function.

Glyakina AV et al.

Biophysical Reviews, 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."