Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.K71insFs
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H6PD

NM_004285.4:p.K71insFs

Associated Papers

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.

Tvrdik T et al.

Human Genetics, 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."