Varaico: Literature-Extracted Genetic Variants

Gene:CDK5RAP2
Variant:p.N459fs
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CDK5RAP2

NM_018249.6:p.N459fs

Associated Papers

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Duerinckx S et al.

Molecular Genetics & Genomic Medicine, 2021

Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.

Duerinckx S et al.

Human Mutation, 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."