Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R59H
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DCX

NM_001195553.2:p.R59H

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Doublecortin reinforces microtubules to promote growth cone advance in soft environments.

Dema A et al.

Biorxiv : the Preprint Server for Biology, 2024

Pseudo-repeats in doublecortin make distinct mechanistic contributions to microtubule regulation.

Manka SW et al.

Embo Reports, 2020

33051979 (PubMed )
Supplement: EMBR-21-e51534-s001.pdf

A dominant dendrite phenotype caused by the disease-associated G253D mutation in doublecortin (DCX) is not due to its endocytosis defect.

Yap CC et al.

The Journal of Biological Chemistry, 2018

Early-Life Epilepsies and the Emerging Role of Genetic Testing.

Berg AT et al.

Jama Pediatrics, 2017

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

González-Morón D et al.

Plos One, 2017

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

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.

Bourgeois F et al.

Neuromuscular Disorders : Nmd, 2015

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

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

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

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

Patient mutations in doublecortin define a repeated tubulin-binding domain.

Taylor KR et al.

The Journal of Biological Chemistry, 2000

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.

Gleeson JG et al.

Annals of Neurology, 1999

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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."