Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.R178C
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DCX

NM_001195553.2:p.R178C

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

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P12

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

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.

Takeshita S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

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

Liu JS et al.

Molecular Cell, 2012

22857951 (PubMed )
Supplement: mmc1.pdf

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

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

Guerrini R et al.

Annals of Neurology, 2003

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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."