Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.A118T
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CDH2

NM_001792.5:p.A118T

Associated Papers

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Novel missense variants in brain morphogenic genes associated with depression and schizophrenia.

Karagyaur M et al.

Frontiers in Psychiatry, 2024

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.

Ferreira NGBP et al.

Endocrine Connections, 2023

Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Li C et al.

Scientific Reports, 2015

26503331 (PubMed )
Supplement: srep14237-s6.xls › Sheet1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC3_ERR166307

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.

Moya PR et al.

European Journal of Human Genetics : Ejhg, 2013

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Campuzano O et al.

European Journal of Medical Genetics, 2012

Genomic structure and eight novel exonic polymorphisms of the human N-cadherin gene.

Harada H et al.

Journal of Human Genetics, 2002

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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."