A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects
EML1 基因中一种新的错义变异与双侧带状皮层下异位症有关，导致纤毛缺陷
期刊:Journal of Human Genetics
影响因子:2.6
doi:10.1038/s10038-021-00947-5
Fenja Markus, Annika Kannengießer, Patricia Näder, Paul Atigbire, Alexander Scholten, Christine Vössing, Eva Bültmann, G Christoph Korenke, Marta Owczarek-Lipska, John Neidhardt
