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Paper Details

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Human Mutation
9
2021
1516C>G:p, 1558C>T:p, 1562dup:p, Arg506Gly, C, CELF2, CELF2 (NM_006561, CELF2 variants, DEE, Pro520Ser, RNA, amino, amino acid, autistic features, c, c.1516C, c.1516C>G, c.1558C>T, c.1562dup, c.272-, developmental and epileptic encephalopathy, except for, intellectual disability, mRNA, mutant CELF2, mutant CELF2 complementary DNA plasmids, mutant CELF2 protein, splice site variant
Author NameAffiliation
Stylianos E AntonarakisSwiss Institute of Genomic Medicine
Stylianos E AntonarakisUniversity of Geneva Medical School
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Release 1.2