Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family

Autor: Dong, Jingyun, Williams, Nori, Cerrone, Marina, Borck, Christopher, Wang, Dawei, Zhou, Bo, Eng, Lucy S., Subbotina, Ekaterina, Um, Sung Yon, Lin, Ying, Ruiter, Kevin, Rojas, Lisa, Coetzee, William A., Sampson, Barbara A., Tang, Yingying
Zdroj: In Heliyon December 2018 4(12)
Databáze: ScienceDirect