Litcius/Paper detail

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

Andrew E. Fry, Christopher Marra, Anna V. Derrick, William Owen Pickrell, Adam T. Higgins, Johann te Water Naudé, Martin A. McClatchey, Sally Davies, Kay Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren Brady, Ronit Mesterman, Mark A. Tarnopolsky, Yuehua Zhang, Ying Yang, Xiaodong Wang, Mark I. Rees, Mitchell Goldfarb, Seo‐Kyung Chung

2020The American Journal of Human Genetics47 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationGene isoformIntracellularEncephalopathyBiologyCell biologyMutationGeneticsMedicineInternal medicineGeneFibroblast Growth Factor ResearchEpigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders