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Homozygous Splice Variant (C.1741-6G>a) of the COL6A1 Gene in Three Patients with Ullrich Congenital Muscular Dystrophy

Maria Barington,Morten Duno,Ulf Birkedal,John Vissing,Alfred Peter Born,Thomas Krag,Elsebet ostergaard

NEUROMUSCULAR DISORDERS（2023）

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Key words
Genetics,Collagen VI -related dystrophy,Ullrich congenital muscular dystrophy,RNA,Splice variant
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