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A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

Alassane Baneye Maiga, Ibrahim Pamanta,Salia Bamba,Lassana Cisse,Salimata Diarra,Sidi Toure,Abdoulaye Yalcouye,Seydou Diallo,Salimata Diallo,Fousseyni Kane,Seybou Hassane Diallo,Hamidou Oumar Ba,Cheick Oumar Guinto,Kenneth Fischbeck,Guida Landoure,Idrissa Ahmadou Cisse

MOLECULAR GENETICS & GENOMIC MEDICINE（2024）

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Key words
Africa,collagen VI-related muscular dystrophies,Mali,splicing variant,Ullrich congenital muscular dystrophy
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