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This page is a summary of: Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay, Pediatric Neurology, February 2016, Elsevier,
DOI: 10.1016/j.pediatrneurol.2015.10.014.
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