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Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion - Ullah - 2022 - International Journal of Developmental Neuroscience ...
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PDF) Clinical and Genetic Characterization of Patients Segregating Variants in KPTN, MINPP1, NGLY1, AP4B1, and SON Underlying Neurodevelopmental Disorders: Genetic and Phenotypic Expansion