Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.K69M
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HPRT1

NM_000194.3:p.K69M

Associated Papers

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.

Petru L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia.

Kurajoh M et al.

Internal Medicine (tokyo, Japan), 2015

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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."