Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
RABGAP1 的双等位基因功能丧失变异导致了一种新的神经发育综合征
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2022.07.024
Rachel Youjin Oh, Ashish R Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E Yuki, Michael D Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W T Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall,