Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.T309fs
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DCC

NM_005215.4:p.T309fs

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

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

Spencer-Smith M et al.

Developmental Medicine and Child Neurology, 2020

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

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."