Varaico: Literature-Extracted Genetic Variants

Gene:DCC
Variant:p.Q691K
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DCC

NM_005215.4:p.Q691K

Associated Papers

Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.

Rahikkala E et al.

Molecular Syndromology, 2024

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

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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."