Varaico: Literature-Extracted Genetic Variants

Gene:SPP1
Variant:p.H82insFs
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SPP1

NM_001040058.2:p.H82insFs

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

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

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

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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."