Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.H204Y
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HPRT1

NM_000194.3:p.H204Y

Associated Papers

Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.

Alanazi M et al.

Biomed Research International, 2014

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.

Duan J et al.

Human Mutation, 2004

Accumulation of somatic mutations in proliferating T cell clones from children treated for leukemia.

Finette BA et al.

Leukemia, 2001

Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.

Mizunuma M et al.

Advances in Experimental Medicine and Biology, 2000

Somatic cell mutations in cancer epidemiology.

Albertini RJ et al.

Iarc Scientific Publications, 1997

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.

Cole J et al.

Mutation Research, 1994

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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."