Activity
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2 actions
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| Monogenic short stature v0.36 | MAP2K1 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.76 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.36 | MAP2K1 |
Arina Puzriakova gene: MAP2K1 was added gene: MAP2K1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 16825433; 16439621; 21396583; 23321623 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome 3, OMIM:615279 Mode of pathogenicity for gene: MAP2K1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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