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A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
Download from doi.orgCross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants
UploadPathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Download from doi.orgGenetic regulatory variation in populations informs transcriptome analysis in rare disease
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