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Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.Pageof 3