Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y72S
Back to variants list

HPRT1

NM_000194.3:p.Y72S

Associated Papers

Unusual presentation of Kelley-Seegmiller syndrome.

Sebesta I et al.

Nucleosides, Nucleotides & Nucleic Acids, 2008

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."