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Nature Genetics|July 31, 2012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodErin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
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