Activity
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Prepair 1000+ v1.546 | GTPBP3 | Andrew Coventry reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prepair 1000+ v0.0 | GTPBP3 |
Zornitza Stark gene: GTPBP3 was added gene: GTPBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3) |