Associated Papers
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.
Alanazi M et al.
Biomed Research International, 2014
A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT HongKong), in a Chinese teenager with recurrent gouty arthritis.
Lam CW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
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