Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.Y125D
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DCX

NM_001195553.2:p.Y125D

Associated Papers

Doublecortin reinforces microtubules to promote growth cone advance in soft environments.

Dema A et al.

Current Biology : Cb, 2024

Doublecortin reinforces microtubules to promote growth cone advance in soft environments.

Dema A et al.

Biorxiv : the Preprint Server for Biology, 2024

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2013

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G et al.

Acta Neuropathologica, 2011

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.

Chou A et al.

Clinical Genetics, 2009

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

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.

Matsumoto N et al.

European Journal of Human Genetics : Ejhg, 2001

Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortin.

Yoshiura K et al.

Journal of Neurobiology, 2000

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

des Portes V et al.

Human Molecular Genetics, 1998

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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."