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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...
שמור ב:
| הוצא לאור ב: | Ann Clin Transl Neurol |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2020
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| נושאים: | |
| גישה מקוונת: | 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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