Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.T79P
Back to variants list

ACTA1

NM_001100.4:p.T79P

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.

Martínez-Diago C et al.

Prenatal Diagnosis, 2024

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."