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| DDG2P v3.12 | PTS | Achchuthan Shanmugasundram reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: ; Publications: 10220141, 8178819, 9450907; Phenotypes: 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY, OMIM:261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PTS | Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PTS |
Rebecca Foulger gene: PTS was added gene: PTS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 10220141; 8178819; 9450907 Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 |
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