@article{oai:twinkle.repo.nii.ac.jp:00025062, author = {YANAGISHITA, Tomoe and ETO, Kaoru and YAMAMOTO-SHIMOJIMA, Keiko and IMAIZUMI, Taichi and NAGATA, Satoru and YAMAMOTO, Toshiyuki}, journal = {Tokyo Women's Medical University Journal}, month = {Dec}, pages = {85--89}, title = {A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly}, volume = {4}, year = {2020} }