Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.S126*
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DCC

NM_005215.4:p.S126*

Associated Papers

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.

Prato A et al.

Journal of Clinical Medicine, 2024

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Collins Hutchinson ML et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Sagi-Dain L et al.

American Journal of Medical Genetics. Part A, 2020

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants.

Bierhals T et al.

European Journal of Medical Genetics, 2018

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Marsh APL et al.

Human Mutation, 2018

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS et al.

Nature Genetics, 2017

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Méneret A et al.

Neurology, 2014

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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."