Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R19*
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DCX

NM_001195553.2:p.R19*

Associated Papers

Pathogenic E2K mutation of doublecortin X (DCX) alters microtubule stabilisation and actin filament association.

Moslehi M et al.

Biochemical and Biophysical Research Communications, 2019

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.

Shahsavani M et al.

Molecular Psychiatry, 2018

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

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

Leger PL et al.

Neurogenetics, 2008

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.

Kappeler C et al.

The Journal of Comparative Neurology, 2007

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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."