Varaico: Literature-Extracted Genetic Variants

Gene:CYFIP1
Variant:p.I476V
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CYFIP1

NM_014608.6:p.I476V

Associated Papers

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

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

Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.

Mariano V et al.

Biological Psychiatry, 2024

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