Expanding the Phenotypic Spectrum of Gabrg2 Variants: A Recurrent Gabrg2 Missense Variant Associated with A Severe Phenotype
Fanggeng Zou,Kirsty McWalter,Lindsay Schmidt,Amy Decker,Jonathan D. Picker,Sharyn Lincoln,David A. Sweetser,Lauren C. Briere,Chellamani Harini,Eric Marsh,Livija Medne,Raymond Y. Wang,Karen Leydiker,Andrew Mower,Gepke Visser,Inge Cuppen,Koen L. van Gassen,Jasper van der Smagt, Adeel Yousaf,Michael Tennison,Anita Shanmugham,Elizabeth Butler,Gabriele Richard,Dianalee McKnight JOURNAL OF NEUROGENETICS（2017）
关键词
Epilepsy,genetics,seizures,GABRG2,phenotype,missense
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