Varaico: Literature-Extracted Genetic Variants

Gene:PECAM1
Variant:p.V125L
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PECAM1

NM_000442.5:p.V125L

Associated Papers

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

Genotype/allelic combinations as potential predictors of myocardial infarction.

Nasibullin TR et al.

Molecular Biology Reports, 2016

PECAM-1 Leu125Val (rs688) Polymorphism and Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus.

Završnik M et al.

Analytical Cellular Pathology (amsterdam), 2016

PECAM-1 gene polymorphisms and soluble PECAM-1 level in rheumatoid arthritis and systemic lupus erythematosus patients: any link with clinical atherosclerotic events?

Pamuk ON et al.

Clinical Rheumatology, 2014

Association of chemokine and chemokine receptor polymorphisms with activity degree of IBD in Tunisian patients.

Gorgi Y et al.

Archives De L'institut Pasteur De Tunis, 2011

Polymorphism in ICAM-1, PECAM-1, E-selectin, and L-selectin genes in Tunisian patients with inflammatory bowel disease.

Khazen D et al.

European Journal of Gastroenterology & Hepatology, 2009

Immune response gene polymorphisms in unrelated donor hematopoietic cell transplantation.

Malkki M et al.

Tissue Antigens, 2007

PECAM-1/CD31 in infarction and longevity.

Listì F et al.

Annals of the New York Academy of Sciences, 2007

Association between platelet endothelial cellular adhesion molecule 1 (PECAM-1/CD31) polymorphisms and acute myocardial infarction: a study in patients from Sicily.

Listì F et al.

European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics, 2004

Intercellular adhesion molecule-1 (ICAM-1) polymorphism is associated with diabetic retinopathy in Type 2 diabetes mellitus.

Kamiuchi K et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2002

Polymorphisms in the platelet-endothelial cell adhesion molecule-1 (PECAM-1) gene, Asn563Ser and Gly670Arg, associated with myocardial infarction in the Japanese.

Sasaoka T et al.

Annals of the New York Academy of Sciences, 2001

Association between platelet endothelial cellular adhesion molecule-1 polymorphisms and atherosclerosis: results of a study on patients from northern Italy.

Listì F et al.

Rejuvenation Research, 0

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