Associated Papers
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
Zhang P et al.
Molecular Genetics & Genomic Medicine, 2020
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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