Varaico: Literature-Extracted Genetic Variants

Gene:STYK1
Variant:p.F161del1
Back to variants list

STYK1

NM_018423.3:p.F161del1

Associated Papers

A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.

Bogusławska DM et al.

Cellular & Molecular Biology Letters, 2022

36434495 (PubMed )
Supplement: 11658_2022_405_MOESM1_ESM.docx
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."