Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R51G
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HPRT1

NM_000194.3:p.R51G

Associated Papers

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

Duan J et al.

Human Mutation, 2004

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."