Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.Y125H
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DCX

NM_001195553.2:p.Y125H

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

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

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL et al.

Neurogenetics, 2008

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

Patient mutations in doublecortin define a repeated tubulin-binding domain.

Taylor KR et al.

The Journal of Biological Chemistry, 2000

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

Yoshiura K et al.

Journal of Neurobiology, 2000

Doublecortin mutations cluster in evolutionarily conserved functional domains.

Sapir T et al.

Human Molecular Genetics, 2000

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

Gleeson JG et al.

Annals of Neurology, 1999

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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