Varaico: Literature-Extracted Genetic Variants

Gene:NAA60
Variant:p.N143T
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NAA60

NM_001083601.3:p.N143T

Associated Papers

Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.

Siggervåg A et al.

Brain : a Journal of Neurology, 2025

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Chelban V et al.

Nature Communications, 2024

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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."