1. Biallelic variants in gle1 with survival beyond neonatal period
- Author
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Jamal Ghoumid, Sami Albaba, Martin Jakob Larsen, Maria Kibaek, Jens Michael Hertz, Thomas Smol, Philippe M. Campeau, Meena Balasubramanian, T. Michael Yates, University of Edinburgh, Université du Québec à Montréal = University of Québec in Montréal (UQAM), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institute of Forensic Medicine [Odense], University of Southern Denmark (SDU), and Sheffield Children's NHS Foundation Trust
- Subjects
Arthrogryposis ,0303 health sciences ,Nucleocytoplasmic Transport Proteins ,business.industry ,Period (gene) ,[SDV]Life Sciences [q-bio] ,030305 genetics & heredity ,Infant, Newborn ,Biology ,03 medical and health sciences ,Text mining ,Genetics ,Humans ,Genetic Predisposition to Disease ,Motor Neuron Disease ,business ,Genetics (clinical) ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,Demography - Abstract
International audience
- Published
- 2020
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