Varaico: Literature-Extracted Genetic Variants

Gene:NAA10
Variant:p.T152fs
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NAA10

NM_003491.4:p.T152fs

Associated Papers

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_MOESM2_ESM.xlsx › NAA10

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.

McTiernan N et al.

European Journal of Human Genetics : Ejhg, 2021

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Cheng H et al.

Human Molecular Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."