1.
Clin Case Rep
; 5(6): 833-840, 2017 06.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28588821
RESUMEN
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.