Varaico: Literature-Extracted Genetic Variants

Gene:DSEL
Variant:p.Y730C
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DSEL

NM_032160.3:p.Y730C

Associated Papers

Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.

Mizumoto S et al.

Genes, 2023

The Specific Role of Dermatan Sulfate as an Instructive Glycosaminoglycan in Tissue Development.

Mizumoto S et al.

International Journal of Molecular Sciences, 2022

Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.

Mizumoto S et al.

Frontiers in Genetics, 2021

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Sasarman F et al.

Journal of Inherited Metabolic Disease, 2016

Complex Rearrangement Involving Three Chromosomes, Four Breakpoints and a 2.7-Mb Deletion in the 18q Segment Observed in a Girl with Mild Learning Difficulties.

Kontodiou M et al.

Cytogenetic and Genome Research, 2015

A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder.

Goossens D et al.

Molecular Psychiatry, 2003

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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."