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2. Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. Bend R; Cohen L; Carter MT; Lyons MJ; Niyazov D; Mikati MA; Rojas SK; Person RE; Si Y; Wentzensen IM; ; Torti E; Lee JA; Boycott KM; Basel-Salmon L; Ferreira CR; Gonzaga-Jauregui C Eur J Hum Genet; 2020 Jan; 28(1):76-87. PubMed ID: 31395947 [TBL] [Abstract][Full Text] [Related]
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