Varaico: Literature-Extracted Genetic Variants

Gene:CRELD1
Variant:p.E414K
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CRELD1

NM_001077415.3:p.E414K

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C et al.

American Journal of Human Genetics, 2012

Novel CRELD1 gene mutations in patients with atrioventricular septal defect.

Guo Y et al.

World Journal of Pediatrics : Wjp, 2010

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Maslen CL et al.

American Journal of Medical Genetics. Part A, 2006

A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.

Kusuma L et al.

Genetic Testing and Molecular Biomarkers, 0

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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."