LSM7 Variants Involving Key Amino-Acids for LSM Complex Function Cause a Neurodevelopmental Disorder with Leukodystrophy and Cerebellar Atrophy
HUMAN GENETICS AND GENOMICS ADVANCES（2025）
关键词
Leukodystrophy,LSM7,SM-like proteins,cerebellar atrophy,cerebellar hypoplasia,RNA metabolism,neurodevelopmental disorder
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