Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.C106*
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HPRT1

NM_000194.3:p.C106*

Associated Papers

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

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2008

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2008

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

Yamada Y et al.

Molecular Genetics and Metabolism, 2007

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 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."