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Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment by Celine Banal, Eddy Quelennec, William Bertani-Torres, Nadjet Gacem, Jeanne Amiel, Sandrine Marlin, Florence Petit, Veronique Pingault, Nathalie Lefort, Nadege Bondurand
Published 2020-10-01
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Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants by William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni-Netto
Published 2023-12-01
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