Varaico: Literature-Extracted Genetic Variants

Gene:CRELD1
Variant:p.R107H
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CRELD1

NM_001077415.3:p.R107H

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

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.

Coste T et al.

Prenatal Diagnosis, 2025

Human Genetics of Atrioventricular Septal Defect.

Maslen CL

Advances in Experimental Medicine and Biology, 2024

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.

Bolunduț AC et al.

Children (basel, Switzerland), 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Redig JK et al.

Aims Genetics, 2014

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Zhian S et al.

American Journal of Medical Genetics. Part A, 2012

Novel CRELD1 gene mutations in patients with atrioventricular septal defect.

Guo Y et al.

World Journal of Pediatrics : Wjp, 2010

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW et al.

Clinical Genetics, 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

Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Robinson SW et al.

American Journal of Human Genetics, 2003

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."