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Nucleotide metabolism disorders v0.0 | ITPA |
Bryony Thompson gene: ITPA was added gene: ITPA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 12384777; 27604308 Phenotypes for gene: ITPA were set to Disorders of purine metabolism; Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647 |