Prchalova, Darina <br/><br/>
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.  [electronic resource] 

 -  BMC medical genetics  06 2017 
 - 62 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-017-0425-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Base Sequence<br/>Exome<br/>Female<br/>Follow-Up Studies<br/>Genetic Variation<br/>Genomics<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Karyotyping<br/>Microarray Analysis<br/>Microcephaly--diagnosis<br/>Mutation<br/>Phenotype<br/>Sequence Analysis, DNA<br/>ras GTPase-Activating Proteins--genetics