Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

Autor: Weiss, Karin, Ekhilevitch, Nina, Cohen, Lior, Bratman-Morag, Sharon, Bello, Rachel, Martinez, Ariel F., Hadid, Yarin, Shlush, Liran I., Kurolap, Alina, Paperna, Tamar, Mory, Adi, Baris, Hagit N., Muenke, Maximilian
Zdroj: In European Journal of Medical Genetics February 2020 63(2)
Databáze: ScienceDirect