Articles with "r87c variant" as a keyword



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Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23158708

Abstract: The CYFIP2 protein (cytoplasmic FMR1-interacting protein 2) is part of the WAVE regulatory complex (WRC). CYFIP2 was recently correlated to neurological disorders by the association of the R87C variant with early infantile epileptic encephalopathy (EIEE)… read more here.

Keywords: r87c; early infantile; r87c variant; infantile epileptic ... See more keywords