Biallelic SIDT2 Loss-of-function in a Child with Cerebellar Ataxia and Lysosomal Dysfunction Mimics Impairment of SIDT2 in Mice.

Tan Nguyen,Grace Yoon, Blake R C Smith, Martine Tétreault, Jeiwook Chae, Sean Massey, Simranpreet Kaur,John Christodoulou, Craig P Hunter,Ken C Pang

Journal of medical genetics（2025）

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