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80P Evaluating the Clinical Significance of Single Heterozygous Likely Pathogenic and Pathogenic Variants for Autosomal Recessive Limb-Girdle Muscular Dystrophies in a Highly Specialised Service for Rare Neuromuscular Disorders

A. Oliwa, J. Hudson, A. Topf, E. Graham, D. Salman, V. Straub, E. Harris,C. Marini-Bettolo

Neuromuscular Disorders(2024)

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