Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y216*
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HPRT1

NM_000194.3:p.Y216*

Associated Papers

Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.

Nguyen KV et al.

Nucleosides, Nucleotides & Nucleic Acids, 2017

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."