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 › 2.0_Final_variants
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K et al.
Journal of Neuromuscular Diseases, 2023
36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R et al.
Journal of Clinical Medicine, 2020
32668698 (PubMed )
Supplement: jcm-09-02220-s001.pdf
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