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Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures
Hewson, Stacy, Puka, Klajdi, Mercimek-Mahmutoglu, SaadetLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.38281
Date:
June, 2017
File:
PDF, 224 KB
english, 2017