Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

• Egile Nagusiak: Darina Prchalova (Egilea), Marketa Havlovicova (Egilea), Katalin Sterbova (Egilea), Viktor Stranecky (Egilea), Miroslava Hancarova (Egilea), Zdenek Sedlacek (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2017-06-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defect...