Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.S104G
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HPRT1

NM_000194.3:p.S104G

Associated Papers

Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Fu R et al.

The Journal of Biological Chemistry, 2012

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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."