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NAA10 p.(D10G) and NAA10 p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex.
Int J Mol Sci. 2020 Nov 26;21(23):8973. doi: 10.3390/ijms21238973.
Int J Mol Sci. 2020.
PMID: 33255974
Free PMC article.
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
Bader I, McTiernan N, Darbakk C, Boltshauser E, Ree R, Ebner S, Mayr JA, Arnesen T.
Bader I, et al.
BMC Med Genet. 2020 Jul 22;21(1):153. doi: 10.1186/s12881-020-01091-1.
BMC Med Genet. 2020.
PMID: 32698785
Free PMC article.
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