Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.R666L
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SP1

NM_138473.3:p.R666L

Associated Papers

Thalassaemia Patients with Polymorphism of <em>COL1A1</em> Sp1 are at Greater Risk of Spine Degenerative Changes.

Hassan S et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2023

Anterior cruciate ligament injury and its postoperative outcomes are not associated with polymorphism in COL1A1 rs1107946 (G/T): a case-control study in the Middle East elite athletes.

Mirghaderi SP et al.

Journal of Orthopaedic Surgery and Research, 2022

Genetic association of the COL1A1 gene promoter -1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population.

A Linjawi S et al.

Turkish Journal of Medical Sciences, 2016

Genetic polymorphisms of collagen type I α1 chain (COL1A1) gene increase the frequency of low bone mineral density in the subgroup of children with juvenile idiopathic arthritis.

Kostik MM et al.

The Epma Journal, 2013

The -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene in relation to changes in femoral neck bone mineral density and the risk of fracture in the elderly: the Rotterdam study.

Yazdanpanah N et al.

Calcified Tissue International, 2007

Association of a -1997G-->T polymorphism of the collagen Ialpha1 gene with bone mineral density in postmenopausal Japanese women.

Yamada Y et al.

Human Biology, 2005

Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians.

Liu PY et al.

Journal of Medical Genetics, 2004

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

Garcia-Giralt N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002

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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."