Jiehui Ma Qiaoqiao Qian Shuang Yan Haoyu Dou Cheng Li Dan Sun
10.3389/fgene.2021.788702
Front Genet
2022 May 19;12:788702.
adprs condsias compound heterozygous variant intron retention nonsense-mediated mrna decay
CC BY
https://pubmed.ncbi.nlm.nih.gov/35664652/
Case Reports
PMC9160522
35664652
Child-Onset Cerebellar Ataxia Caused by Two Compound Heterozygous Variants in ADPRS Gene: A Case Report
2022