Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.R234G
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PNP

NM_000270.4:p.R234G

Associated Papers

Purine nucleoside phosphorylase deficiency: a mutation update.

Walker PL et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.

Grunebaum E et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

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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."