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3. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. Yıldız Y; Koşukcu C; Aygün D; Akçaboy M; Öztek Çelebi FZ; Taşcı Yıldız Y; Şahin G; Aytekin C; Yüksel D; Lay İ; Özgül RK; Dursun A Clin Genet; 2021 Sep; 100(3):308-317. PubMed ID: 34013567 [TBL] [Abstract][Full Text] [Related]
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