Associated Papers
Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.
Bottillo I et al.
American Journal of Medical Genetics. Part A, 2025
40304357 (PubMed )
Supplement: supplement_1.xlsx › Females_heart_asymptomatic
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.
Lyon GJ et al.
European Journal of Human Genetics : Ejhg, 2023
37130971 (PubMed )
Supplement: 41431_2023_1368_MOESM5_ESM.xlsx › NAA10_20220413.list3.hg19_mul
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
McTiernan N et al.
Human Genetics, 2022
NAA10 variant in 38-week-gestation male patient: a case study.
Afrin A et al.
Cold Spring Harbor Molecular Case Studies, 2020
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