Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.R229Q
Back to variants list

PNP

NM_000270.4:p.R229Q

Associated Papers

Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder.

Musayev FN et al.

The Journal of Biological Chemistry, 2009

New findings in primary immunodeficiency.

Gennery AR et al.

Advances in Experimental Medicine and Biology, 2009

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."