Activity
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3 actions
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| Prepair 1000+ v1.545 | PFKM | Lucy Spencer reviewed gene: PFKM: Rating: GREEN; Mode of pathogenicity: None; Publications: 22364848; Phenotypes: Glycogen storage disease VII MIM#232800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | PFKM | Seb Lunke Added phenotypes Glycogen storage disease VII, 232800 (3) for gene: PFKM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | PFKM |
Zornitza Stark gene: PFKM was added gene: PFKM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3) |
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