A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family by 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, The H3Africa Consortium

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Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali by Salia Bamba, Salia Bamba, Lala Sidibé, Lala Sidibé, Seybou H. Diallo, Seybou H. Diallo, Lassana Cissé, Kékouta Dembélé, Abdoulaye Yalcouyé, Weizhen Ji, Mohamed Emile Dembélé, Salimata Diarra, Salimata Diarra, Alassane dit Baneye Maiga, Oumou Traoré, Salimata Diallo, Samuel Ephrata Mefoung, Amadou Touré, Amadou Touré, Adama Koné, Lauren Jeffries, Cheick O. Guinto, Cheick O. Guinto, Emily K. Mis, Kenneth H. Fischbeck, Mustafa K. Khokha, Saquib A. Lakhani, Guida Landouré, Guida Landouré

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