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Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein...
Shranjeno v:
| izdano v: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4224754/ https://ncbi.nlm.nih.gov/pubmed/25332050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0113-9 |
| Oznake: |
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