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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...
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| Published in: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
John Wiley and Sons Inc.
2020
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| Subjects: | |
| Online Access: | 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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