Activity
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2 actions
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| Monogenic short stature v0.56 | SHOC2 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.77 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.56 | SHOC2 |
Arina Puzriakova gene: SHOC2 was added gene: SHOC2 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SHOC2 were set to 19684605; 22528146; 23918763 Phenotypes for gene: SHOC2 were set to Noonan syndrome-like with loose anagen hair 1, OMIM:607721 Mode of pathogenicity for gene: SHOC2 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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