Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.K73R
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HPRT1

NM_000194.3:p.K73R

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

Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Kan T et al.

Bioinformatics and Biology Insights, 2007

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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."