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A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype
The transforming growth factor-β-activated kinase 1 (TAK1) encoded by mitogen-activated protein kinase kinase kinase 7 (MAP3K7) is widely expressed and participates in multiple molecular and cellular processes, including growth, differentiation, inflammation, and apoptosis. Pathogenic variants in MA...
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| Veröffentlicht in: | Cold Spring Harb Mol Case Stud |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7304360/ https://ncbi.nlm.nih.gov/pubmed/32299812 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005207 |
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