Activity
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2 actions
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| Monogenic short stature v0.78 | NLRP7 | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.78 | NLRP7 |
Arina Puzriakova gene: NLRP7 was added gene: NLRP7 was added to Monogenic short stature. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP7 were set to 28561018 Phenotypes for gene: NLRP7 were set to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance; Hydatidiform mole, recurrent, 1 OMIM:231090; hydatidiform mole, recurrent, 1 MONDO:0009273 Penetrance for gene: NLRP7 were set to unknown |
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