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Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Author:
Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Carrero Muñiz, DidoUniovi authority; Velasco Cotarelo, María GloriaUniovi authority; López Otín, CarlosUniovi authority
Publication date:
2018
Publisher version:
http://dx.doi.org/10.1136/jmedgenet-2018-105528
Citación:
Journal Of Medical Genetics, 55(12), p. 837-845 (2018); doi:10.1136/jmedgenet-2018-105528
Descripción física:
p. 837-845
URI:
http://hdl.handle.net/10651/50723
ISSN:
0022-2593; 1468-6244
DOI:
10.1136/jmedgenet-2018-105528
Patrocinado por:

Deutsche Forschungsgemeinschaft [SFB1002]; Italian Ministry of Health; Fondazione Bambino Gesu (Vite Coraggiose)

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