Fry, Andrew E ;
Marra, Christopher ;
Derrick, Anna V...
Fry , A E , Marra , C , Derrick , A V , Pickrell , W O , Higgins , A T , te Water Naude , J , McClatchey , M A , Davies , S J , Metcalfe , K A , Tan , H J , Mohanraj , R , Avula , S , Williams , D , Brady , L I , Mesterman , R , Tarnopolsky , M A , Zhang , Y , Yang , Y , Wang , X , Rees , M I , Goldfarb , M & Chung , S K 2021 , ' Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy ' , American Journal of Human Genetics , vol. 108 , no. 1 , pp. 176-185 . https://doi.org/10.1016/j.ajhg.2020.10.017.
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2021