Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.R87S
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CYFIP2

NM_001037333.3:p.R87S

Associated Papers

Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models.

Ma R et al.

Brain & Development, 2025

The WAVE complex in developmental and adulthood brain disorders.

Kim HG et al.

Experimental & Molecular Medicine, 2025

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description.

Da Silva Cardoso J et al.

Cureus, 2023

Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.

Biembengut ÍV et al.

Molecular Biology Reports, 2021

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.

Begemann A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."