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Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch–Nyhan disease and HPRT1-related gout by in silico mutational analysis

Mendelian DisorderHprt1 Missense MutationsMedicineGeneticsGenetic DisorderPathologyMolecular GeneticsDisease Gene IdentificationGenomicsHprt1-related GoutMolecular DiagnosticsStructure-function Relationship