Varaico: Literature-Extracted Genetic Variants

Gene:NAA10
Variant:p.L86R
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NAA10

NM_003491.4:p.L86R

Associated Papers

Conformational plasticity links structural instability of NAA10F128I and NAA10F128L mutants to their catalytic deregulation.

Saha S et al.

Computational and Structural Biotechnology Journal, 2024

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

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."