Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.E47delFs
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HPRT1

NM_000194.3:p.E47delFs

Associated Papers

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).

Nguyen KV et al.

Nucleosides, Nucleotides & Nucleic Acids, 2020

Identification of novel mutations in the human HPRT gene.

Nguyen KV et al.

Nucleosides, Nucleotides & Nucleic Acids, 2013

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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."