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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Detalles Bibliográficos
Autores principales: AbuBakr, Fatima, Jeffries, Lauren, Ji, Weizhen, McGrath, James M., Lakhani, Saquib A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304360/
https://www.ncbi.nlm.nih.gov/pubmed/32299812
http://dx.doi.org/10.1101/mcs.a005207

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304360/
https://www.ncbi.nlm.nih.gov/pubmed/32299812
http://dx.doi.org/10.1101/mcs.a005207

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