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| Renal Tubulopathies and related disorders v0.4 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HPRT1 were set to 20176575 Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322) |
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