https://www.selleckchem.com/
This study also discusses certain contributions and limitations.We report heterozygous CELF2 (NM_006561.3) variants in five unrelated individuals Individuals 1-4 exhibited developmental and epileptic encephalopathy (DEE) and Individual 5 had intellectual disability and autistic features. CELF2 encodes a nucleocytoplasmic shuttling RNA-binding protein that has multiple roles in RNA processing and is involved in the embryonic development of the central nervous system and heart. Whole-exome sequencing identified the following CELF2 variants two missense varian
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