Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.Y72fs
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HPRT1

NM_000194.3:p.Y72fs

Associated Papers

Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

de Gemmis P et al.

Mutation Research, 2010

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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."