Associated Papers
Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.
Ramage DE et al.
Nature Communications, 2025
39929834 (PubMed )
Supplement: 41467_2025_56782_MOESM4_ESM.xlsx › THAP1_Deep_Mutational_Scan
Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.
Wang F et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
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