VP.72 Diversity of splice-acting variants in the COL6A1, COL6A2 and COL6A3 genes associated with collagen VI-related dystrophies

V. Bolduc, R. McCarthy,Y. Hu,S. Silverstein,P. Uapinyoying, S. Donkervoort, A. Foley,C. Bönnemann

Neuromuscular Disorders(2022)

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col6a3 genes,col6a1,col6a2,collagen,splice-acting,vi-related
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