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Nucleotide metabolism disorders v0.0 | HPRT1 |
Bryony Thompson gene: HPRT1 was added gene: HPRT1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 2928313; 23975452; 20176575 Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome MONDO:0010298; Disorders of purine metabolism |