Gambin, Tomasz <br/><br/>
Identification of novel candidate disease genes from de novo exonic copy number variants.  [electronic resource] 

 -  Genome medicine  09 2017 
 - 83 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1756-994X 
<br/><br/><label>Standard No.: </label>10.1186/s13073-017-0472-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cohort Studies<br/>DNA Copy Number Variations<br/>Exons<br/>Genetic Diseases, Inborn<br/>Genome, Human<br/>Homeodomain Proteins--genetics<br/>Humans<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Membrane Proteins--genetics<br/>Neurodevelopmental Disorders--genetics<br/>Protein Serine-Threonine Kinases--genetics<br/>Retrospective Studies<br/>Serine-Threonine Kinase 3<br/>Transcription Factors--genetics<br/>Whole Genome Sequencing