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| DDG2P v3.12 | QDPR | Achchuthan Shanmugasundram reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: ; Publications: 8326489, 2116088, 11153907, 9341885, 9744478; Phenotypes: BH4-DEFICIENT HYPERPHENYLALANINEMIA C, OMIM:261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | QDPR | Achchuthan Shanmugasundram Publications for gene: QDPR were updated from 9341885; 9744478; 2116088; 8326489; 11153907 to 8326489; 2116088; 11153907; 9744478; 9341885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | QDPR | Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | QDPR |
Rebecca Foulger gene: QDPR was added gene: QDPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 9341885; 9744478; 2116088; 8326489; 11153907 Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 |
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