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Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
BACKGROUND: RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different tissue types including the brain. However, mutatio...
Uloženo v:
| Vydáno v: | Ann Clin Transl Neurol |
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| Hlavní autoři: | , , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7318102/ https://ncbi.nlm.nih.gov/pubmed/32431071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51059 |
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