Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.Y64C
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RAC1

NM_006908.5:p.Y64C

Associated Papers

Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2025

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.

Gaouzi Z et al.

Plos One, 2025

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M et al.

European Journal of Human Genetics : Ejhg, 2023

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Banka S et al.

Brain : a Journal of Neurology, 2022

An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction.

Tian C et al.

Frontiers in Molecular Neuroscience, 2018

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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."