Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R59L
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DCX

NM_001195553.2:p.R59L

Associated Papers

Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.

Manka SW et al.

Embo Reports, 2020

33051979 (PubMed )
Supplement: EMBR-21-e51534-s001.pdf

Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.

Yap CC et al.

The Journal of Biological Chemistry, 2016

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

The DCX-domain tandems of doublecortin and doublecortin-like kinase.

Kim MH et al.

Nature Structural Biology, 2003

Doublecortin mutations cluster in evolutionarily conserved functional domains.

Sapir T et al.

Human Molecular Genetics, 2000

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Kato M et al.

Human Genetics, 1999

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

Gleeson JG et al.

Annals of Neurology, 1999

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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."