Varaico: Literature-Extracted Genetic Variants

Gene:DCX
Variant:p.A71S
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DCX

NM_001195553.2:p.A71S

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 and JIP3 are neural-specific counteracting regulators of dynein-mediated retrograde trafficking.

Fu X et al.

Elife, 2022

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

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

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL et al.

Neurogenetics, 2008

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Mitotic impairment by doublecortin is diminished by doublecortin mutations found in patients.

Couillard-Despres S et al.

Neurogenetics, 2004

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

Aigner L et al.

Neurology, 2003

Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation.

Aigner L et al.

Neuropediatrics, 2000

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