Isolated PREPL deficiency associated with congenital myasthenic syndrome-22
Lucia Laugwitz(University Children's Hospital Tübingen), Felix Distelmaier(Düsseldorf University Hospital), Silke Redler(Heinrich Heine University Düsseldorf), Irene Zeile(Heinrich Heine University Düsseldorf), Tobias B. Haack(Technical University of Munich), Rebecca Buchert(Institute of Human Genetics), Dagmar Wieczorek(Essen University Hospital), Marc Sturm(University of Tübingen), Ulrike Schara
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