Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.G270R
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ACTA2

NM_001613.4:p.G270R

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

van den Bersselaar LM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Yagyu T et al.

Journal of the American Heart Association, 2023

37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
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