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Minigene Assay of an Intronic Variant to Investigate Phenotypic Variability of ATP1A3 Splice Variants

Author:Lara, Orlando   Mochida, Ganeshwaran   Yu, Timothy   Calame, Daniel   Yano, Sho   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Cerebrovascular Disease and Interventional Neurology  

Program Number:P4.005  

Author Institution:

Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Syndrome: Case Series and Systematic Review

Author:Garcia Velazquez, Sandra Azareli   Parra Díaz, Paloma   Altintas, Burak   Hadouri, Nawale   Durham, Emily   Martin, Shayanne   Monteil, Arnaud   Gooch, Catherine   Gil-Nagel, Antonio   Calame, Daniel   Tanner, Jeremy   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Epilepsy/Clinical Neurophysiology (EEG)  

Program Number:P4.008  

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