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Journal of Neuromuscular Diseases|June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert PanelJustyne E Ross, May Flowers, Shannon McNulty, et al.
American Journal of Human Genetics|October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research StudiesLaura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.
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