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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes
Clinicians should consider that clinical exome sequencing provides the unique potential to disentangle complex phenotypes into multiple genetic etiologies. Further, functional studies on variants of uncertain significance are necessary to arrive at an accurate diagnosis for the patient.
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| Veröffentlicht in: | Clin Case Rep |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
John Wiley and Sons Inc.
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5458005/ https://ncbi.nlm.nih.gov/pubmed/28588821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.904 |
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