Activity
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2 actions
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| Skeletal dysplasia v0.0 | WNT10B |
Zornitza Stark gene: WNT10B was added gene: WNT10B was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT10B were set to 24211389 Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 225300 |
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| Skeletal dysplasia v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green Mode of inheritance for gene: WNT1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: WNT1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis imperfecta, type XV, 615220; {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 |
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