Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.W146C
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DCX

NM_001195553.2:p.W146C

Associated Papers

Different Doublecortin (DCX) Patient Alleles Show Distinct Phenotypes in Cultured Neurons: EVIDENCE FOR DIVERGENT LOSS-OF-FUNCTION AND "OFF-PATHWAY" CELLULAR MECHANISMS.

Yap CC et al.

The Journal of Biological Chemistry, 2016

Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.

Liu JS et al.

Molecular Cell, 2012

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

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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."