Found: 2
Select item for more details and to access through your institution.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
- By:
- Publication type:
- Article
Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1240416
- By:
- Publication type:
- Article