Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Stur E et al.
Genetics and Molecular Research : Gmr, 2016
Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.
Duan J et al.
Human Mutation, 2004
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