Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.N203_H204Splc
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HPRT1

NM_000194.3:p.N203_H204Splc

Associated Papers

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.

Bertelli M et al.

Journal of Inherited Metabolic Disease, 2004

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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."