Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders
Liang Jin, Yun Li, Sheng Luo, Qian Peng, Qiong‐Xiang Zhai, Jin Zhai, Liang‐Di Gao, Jia-Jun Guo, Wang Song, Yong‐Hong Yi, Na He, Yong‐Jun Chen
Topics & Concepts
Missense mutationEpilepsyExome sequencingIntellectual disabilityPhenotypeIn silicoBiologyGeneticsCortical dysplasiaAlleleExomeGeneBioinformaticsNeuroscienceGenomics and Rare DiseasesGenetic factors in colorectal cancerConnective tissue disorders research