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

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 defects can al...

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Autores principales: Prchalova, Darina, Havlovicova, Marketa, Sterbova, Katalin, Stranecky, Viktor, Hancarova, Miroslava, Sedlacek, Zdenek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457574/
https://www.ncbi.nlm.nih.gov/pubmed/28576131
http://dx.doi.org/10.1186/s12881-017-0425-4

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