Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
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 › 2.0_Final_variants
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J et al.
International Journal of Molecular Sciences, 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.
Yokoi T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.
Yoshida Y et al.
Heartrhythm Case Reports, 2016
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