Varaico: Literature-Extracted Genetic Variants

Gene:NAA20
Variant:p.A80V
Back to variants list

NAA20

NM_016100.5:p.A80V

Associated Papers

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

D'Onofrio G et al.

Clinical Genetics, 2023

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.

Morrison J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."