Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.H204L
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HPRT1

NM_000194.3:p.H204L

Associated Papers

Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Fu R et al.

Brain : a Journal of Neurology, 2014

A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.

Noori P et al.

Carcinogenesis, 2005

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."