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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
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- Article
Recent Advances on the Structure and Function of RNA Acetyltransferase Kre33/NAT10.
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- Cells (2073-4409), 2019, v. 8, n. 9, p. 1035, doi. 10.3390/cells8091035
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- Publication type:
- Article
Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast.
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- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1240416
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- Article