Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L163fs
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HPRT1

NM_000194.3:p.L163fs

Associated Papers

Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.

Hasegawa H et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 2015

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2014

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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."