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P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.
- Published in:
- Metabolic Brain Disease, 2022, v. 37, n. 8, p. 2669, doi. 10.1007/s11011-021-00669-9
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- Article
Identification of four novel mutations in VSP13A in Iranian patients with Chorea-acanthocytosis (ChAc)
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- Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02111-y
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- Publication type:
- Article