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Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
Paolacci, Stefano, Li, Yun, Agolini, Emanuele, Bellacchio, Emanuele, Arboleda-Bustos, Carlos E, Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmüller, Janine, Arboleda, Gonzalo,Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2018-105528
Date:
October, 2018
File:
PDF, 3.72 MB
english, 2018