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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium; Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Among authors: mohanraj r. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
Genetic regulation of gene expression in the epileptic human hippocampus.
Mirza N, Appleton R, Burn S, du Plessis D, Duncan R, Farah JO, Feenstra B, Hviid A, Josan V, Mohanraj R, Shukralla A, Sills GJ, Marson AG, Pirmohamed M. Mirza N, et al. Among authors: mohanraj r. Hum Mol Genet. 2017 May 1;26(9):1759-1769. doi: 10.1093/hmg/ddx061. Hum Mol Genet. 2017. PMID: 28334860 Free PMC article.
128 results