Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

Title
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
Authors
Keywords
GNAO1, Clinical whole-exome sequencing, Early infantile epileptic encephalopathy
Journal
CLINICA CHIMICA ACTA
Volume 451, Issue -, Pages 292-296
Publisher
Elsevier BV
Online
2015-10-23
DOI
10.1016/j.cca.2015.10.011

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