A de novo heterozygous missense BSCL2 variant in 2 siblings...

Seizure 2019 / 10 Vol. 71

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

Fernández-Marmiesse, Ana, Sánchez-Iglesias, Sofía, Darling, Alejandra, O'Callaghan, María M., Tonda, Raúl, Jou, Cristina, Araújo-Vilar, David
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Volume:
71
Language:
english
Journal:
Seizure
DOI:
10.1016/j.seizure.2019.07.019
Date:
October, 2019
File:
PDF, 705 KB
english, 2019
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