Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.Q235_V236Splc
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DCX

NM_001195553.2:p.Q235_V236Splc

Associated Papers

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

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2013

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

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

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.

Pilz DT 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."