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Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
UploadGenome sequencing in congenital cataracts improves diagnostic yield
Download from onlinelibrary.wiley.comSevere speech impairment is a distinguishing feature of FOXP1 ‐related disorder
Download from onlinelibrary.wiley.comGrowth Trajectories in Genetic Subtypes of Prader–Willi Syndrome
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