Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.V289I
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CDH2

NM_001792.5:p.V289I

Associated Papers

Standardizing CRISPR-Cas13 knockdown technique to investigate the role of cdh2 gene in pituitary development through growth hormone expression and transcription factors.

Ventura Fernandes BH et al.

Frontiers in Endocrinology, 2024

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

Ferreira NGBP et al.

Endocrine Connections, 2023

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.

Richer W et al.

Oncotarget, 2017

28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1

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

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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."