Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

por Pluta, Natalie, Hoffjan, Sabine, Zimmer, Frederic, Köhler, Cornelia, Lücke, Thomas, Mohr, Jennifer, Vorgerd, Matthias, Nguyen, Hoa Huu Phuc, Atlan, David, Wolf, Beat, Zaum, Ann-Kathrin, Rost, Simone
Publicado 2022