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Variants Affecting the C-Terminal of CSF1R Cause Congenital Vertebral Malformation Through a Gain-of-Function Mechanism
CSF1R encodes the colony-stimulating factor 1 receptor which regulates the proliferation, differentiation, and biological activity of monocyte/macrophage lineages. Pathogenic variants in CSF1R could lead to autosomal dominant adult-onset leukoencephalopathy with axonal spheroids and pigmented glia o...
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| 發表在: | Front Cell Dev Biol |
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| Main Authors: | , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Frontiers Media S.A.
2021
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8017210/ https://ncbi.nlm.nih.gov/pubmed/33816491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.641133 |
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