Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.L107_Q109delFs
Back to variants list

XPR1

NM_004736.4:p.L107_Q109delFs

Associated Papers

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

Chelban V et al.

Nature Communications, 2024

38480682 (PubMed )
Supplement: 41467_2024_46354_MOESM1_ESM.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."