Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.R179G
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ACTA2

NM_001613.4:p.R179G

Associated Papers

Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.

Li Q et al.

Frontiers in Pharmacology, 2024

Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.

Kaw A et al.

American Journal of Medical Genetics. Part A, 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."