Varaico: Literature-Extracted Genetic Variants

Gene:NAA80
Variant:p.L108P
Back to variants list

NAA80

NM_001200016.2:p.L108P

Associated Papers

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

Muffels IJJ et al.

Brain Communications, 2021

34805998 (PubMed )
Supplement: fcab256_supplementary_data.pdf
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."