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Browse result for Short-rib polydactyly syndrome
※ introduction Short rib¨Cpolydactyly syndrome is a family of four closely related dysplasias:
I ¨C "Saldino-Noonan type"
II ¨C "Majewski type"
III ¨C "Verma-Naumoff type" (associated with DYNC2H1)
IV ¨C "Beemer-Langer type"
Reference
Wiki: Short-rib polydactyly syndrome
Reference
Wiki: Short-rib polydactyly syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01864 | Q96PY6 | 4750 | NEK1 | Serine/threonine-protein kinase Nek1 | Homo sapiens |
| PTMD09978 | Q8NCM8 | 79659 | DYNC2H1 | Cytoplasmic dynein 2 heavy chain 1 | Homo sapiens |
