Varaico: Literature-Extracted Genetic Variants

Gene:NDE1
Variant:p.F82L
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NDE1

NM_017668.3:p.F82L

Associated Papers

Cdk1 phosphorylation of the dynein adapter Nde1 controls cargo binding from G2 to anaphase.

Wynne CL et al.

The Journal of Cell Biology, 2018

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan CA et al.

Brain & Development, 2014

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

Alkuraya FS et al.

American Journal of Human Genetics, 2011

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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."