Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.V793G
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DCC

NM_005215.4:p.V793G

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

Genetic heterogeneity in corpus callosum agenesis.

Pânzaru MC et al.

Frontiers in Genetics, 2022

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Spencer-Smith M et al.

Developmental Medicine and Child Neurology, 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

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP et al.

Nature Genetics, 2017

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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."