Activity
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2 actions
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| Monogenic short stature v0.126 | KMT2D | Arina Puzriakova Entity copied from Growth failure in early childhood v3.79 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.126 | KMT2D |
Arina Puzriakova gene: KMT2D was added gene: KMT2D was added to Monogenic short stature. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 31949313; 32083401; 21882399 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, OMIM:147920 |
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