Activity
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2 actions
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| Monogenic short stature v0.94 | COL1A1 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.94 | COL1A1 |
Arina Puzriakova gene: COL1A1 was added gene: COL1A1 was added to Monogenic short stature. Sources: Expert list Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type IV, 166220 |
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