Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R89*
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DCX

NM_001195553.2:p.R89*

Associated Papers

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

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

Aigner L et al.

Neurology, 2003

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C et al.

Human Molecular Genetics, 2000

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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."