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American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.European Journal of Human Genetics : EJHG|December 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorderCosima M Schmid, Anne Gregor, Anna Ruiz, et al.Pageof 5