Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.V217I
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PNP

NM_000270.4:p.V217I

Associated Papers

The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature.

Fekrvand S et al.

Immunological Investigations, 2019

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

Grunebaum E et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious.

Moallem HJ et al.

Clinical Immunology (orlando, Fla.), 2002

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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."