De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias
神经发育综合征中 PP2A 调节亚基 PPP2R2B 的新生错义变异：与线粒体动力学和脊髓小脑共济失调的潜在联系
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddae166
Priyanka Sandal, Chian Ju Jong, Ronald A Merrill, Grace J Kollman, Austin H Paden, Eric G Bend, Jennifer Sullivan, Rebecca C Spillmann, Vandana Shashi, Anneke T Vulto-van Silfhout, Rolph Pfundt, Bert B A de Vries, Pan P Li, Louise S Bicknell, Stefan Strack1
