Activity
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2 actions
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| Monogenic short stature v0.53 | RIT1 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.77 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.53 | RIT1 |
Arina Puzriakova gene: RIT1 was added gene: RIT1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 23791108; 25124994; 24939608 Phenotypes for gene: RIT1 were set to Noonan syndrome 8, OMIM:615355 Mode of pathogenicity for gene: RIT1 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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