Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP2
Variant:p.E468D
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CYFIP2

NM_001037333.3:p.E468D

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

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Salokivi T et al.

American Journal of Medical Genetics. Part A, 2024

WAVE regulatory complex.

Rottner K et al.

Current Biology : Cb, 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."