Varaico: Literature-Extracted Genetic Variants

Gene:CUL4B
Variant:p.K703*
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CUL4B

NM_003588.4:p.K703*

Associated Papers

Variants in CUL4B are associated with cerebral malformations.

Vulto-van Silfhout AT et al.

Human Mutation, 2015

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Londin ER et al.

American Journal of Medical Genetics. Part A, 2014

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.

Ravn K et al.

Clinical Genetics, 2012

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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."