Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.E272K
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ACTA1

NM_001100.4:p.E272K

Associated Papers

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.10_Newer_reports_-_other

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.

Byrne AB et al.

Nature Medicine, 2023

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