Varaico: Literature-Extracted Genetic Variants

Gene:SPP1
Variant:p.Q52insFs
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SPP1

NM_001040058.2:p.Q52insFs

Associated Papers

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.

Luo H et al.

The Journal of Investigative Dermatology, 2021

Identification of secreted phosphoprotein 1 gene as a new rheumatoid arthritis susceptibility gene.

Gazal S et al.

Annals of the Rheumatic Diseases, 2015

New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.

Hendig D et al.

Frontiers in Genetics, 2013

SPP1 promoter polymorphisms and glioma risk in a Chinese Han population.

Chen J et al.

Journal of Human Genetics, 2010

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.

Li Q et al.

Experimental Dermatology, 2009

SPP1 promoter polymorphisms: identification of the first modifier gene for pseudoxanthoma elasticum.

Hendig D et al.

Clinical Chemistry, 2007

Potential regulatory SNPs in promoters of human genes: a systematic approach.

Stepanova M et al.

Molecular and Cellular Probes, 2006

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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."