Barrie, Elizabeth S <br/><br/>
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.  [electronic resource] 

 -  European journal of medical genetics  Mar 2020 
 - 103735 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.103735  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Codon, Nonsense<br/>Epilepsy--genetics<br/>Female<br/>Frameshift Mutation<br/>Genetic Association Studies<br/>Genotype<br/>Guanine Nucleotide Exchange Factors--genetics<br/>Heredity<br/>Heterozygote<br/>Humans<br/>Intellectual Disability--diagnostic imaging<br/>Male<br/>Mosaicism<br/>Muscle Hypotonia--genetics<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Speech-Language Pathology<br/>Exome Sequencing