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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 Cissé,Salimata Diarra,Sidi Touré,Abdoulaye Yalcouyé, Seydou Diallo,Salimata Diallo,Fousseyni Kané,Seybou Hassane Diallo,Hamidou Oumar Ba,Cheick Oumar Guinto,Kenneth Fischbeck,Guida Landoure,Idrissa Ahmadou Cissé, HAfrica Consortium

Molecular Genetics & Genomic Medicine（2024）

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关键词
Africa,COL6A1,collagen VI‐related muscular dystrophies,Mali,splicing variant,Ullrich congenital muscular dystrophy
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