Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.Q507P
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CTNND2

NM_001332.4:p.Q507P

Associated Papers

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.

Moses RG et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

Delta-Catenin as a Modulator of Rho GTPases in Neurons.

Donta MS et al.

Frontiers in Cellular Neuroscience, 2022

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases.

Lu Q et al.

Human Genetics, 2016

Loss of δ-catenin function in severe autism.

Turner TN et al.

Nature, 2015

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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."