Varaico: Literature-Extracted Genetic Variants

Gene:CRELD1
Variant:p.T311I
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CRELD1

NM_001077415.3:p.T311I

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

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

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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."