Found: 3
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NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 6, p. 907, doi. 10.1093/hmg/ddaa011
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- Publication type:
- Article
Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 6, p. 892, doi. 10.1093/hmg/ddaa010
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- Publication type:
- Article
Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 6, p. 881, doi. 10.1093/hmg/ddaa008
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- Publication type:
- Article