Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R39*
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DCX

NM_001195553.2:p.R39*

Associated Papers

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

Lee JY et al.

Annals of Human Genetics, 2024

DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature.

Gao C et al.

Heliyon, 2023

Double cortex syndrome (subcortical band heterotopia): A case report.

Afzal F et al.

Radiology Case Reports, 2023

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

Neuropsychological profile of children with subcortical band heterotopia.

Spencer-Smith M et al.

Developmental Medicine and Child Neurology, 2009

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

Identification of neurabin II as a novel doublecortin interacting protein.

Tsukada M et al.

Mechanisms of Development, 2003

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

Aigner L et al.

Neurology, 2003

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

Kato M et al.

Annals of Neurology, 2001

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

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."