Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.G470D
Back to variants list

DCC

NM_005215.4:p.G470D

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

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

Subependymal giant cell astrocytoma-like astrocytoma: a neoplasm with a distinct phenotype and frequent neurofibromatosis type-1-association.

Palsgrove DN et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

29973652 (PubMed )
Supplement: NIHMS972465-supplement-1.xlsx › CASE_3

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/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.

Bouilly J et al.

Human Molecular 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."