Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.R275*
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DCC

NM_005215.4:p.R275*

Associated Papers

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

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

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

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

Jamuar SS et al.

Nature Genetics, 2017

Congenital mirror movements caused by a mutation in the DCC gene.

Meneret A et al.

Developmental Medicine and Child Neurology, 2015

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."