Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.E152Fs
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APRT

NM_000485.3:p.E152Fs

Associated Papers

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2014

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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."