Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.P170S
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APRT

NM_000485.3:p.P170S

Associated Papers

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.

Jurecka A et al.

Journal of Inherited Metabolic Disease, 2008

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

Torres RJ et al.

Human Mutation, 2000

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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."