Varaico: Literature-Extracted Genetic Variants

Gene:CDC42BPB
Variant:p.R1350Q
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CDC42BPB

NM_006035.4:p.R1350Q

Associated Papers

Genetic Alterations in Atypical Cerebral Palsy Identified Through Chromosomal Microarray and Exome Sequencing.

Han JY et al.

International Journal of Molecular Sciences, 2025

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I et al.

American Journal of Medical Genetics. Part A, 2020

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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."