Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R48C
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HPRT1

NM_000194.3:p.R48C

Associated Papers

HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

Corrigan A et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene.

O'Neill JP et al.

Environmental and Molecular Mutagenesis, 1998

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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."