Varaico: Literature-Extracted Genetic Variants

Gene:NAA80
Variant:p.L130P
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NAA80

NM_001200016.2:p.L130P

Associated Papers

Illuminating the impact of N-terminal acetylation: from protein to physiology.

McTiernan N et al.

Nature Communications, 2025

Naa80 is required for actin N-terminal acetylation and normal hearing in zebrafish.

Ree R et al.

Life Science Alliance, 2024

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Muffels IJJ et al.

Brain Communications, 2021

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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."