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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0.
Nat Commun. 2024.
PMID: 38480682
Free PMC article.
A nonsense variant in the N-terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft.
Varland S, Brønstad KM, Skinner SJ, Arnesen T.
Varland S, et al. Among authors: bronstad km.
Am J Med Genet A. 2023 Sep;191(9):2402-2410. doi: 10.1002/ajmg.a.63338. Epub 2023 Jun 30.
Am J Med Genet A. 2023.
PMID: 37387332
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