Novel Loss-of-function Variants Expand ABCC9-related Intellectual Disability and Myopathy Syndrome.
Stephanie Efthymiou,Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska,Fenne L. Komdeur, Robin A. Liang,Mohamed S. Abdel-Hamid,Tipu Sultan,Tuva Baroy,Marijke Van Ghelue,Barbara Vona,Reza Maroofian,Faisal Zafar,Fowzan S. Alkuraya,Maha S. Zaki,Mariasavina Severino, Kingsley C. Duru,Robert C. Tryon, Lin Vigdis Brauteset,Morad Ansari,Mark Hamilton,Mieke M. van Haelst,Gijs van Haaften,Federico Zara,Henry Houlden,Eric Samarut,Colin G. Nichols,Marie F. Smeland,Conor Mcclenaghan Brain（2024）
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KATP channels,SUR2,ABCC9,neurodevelopmental disorder
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