Varaico: Literature-Extracted Genetic Variants

Gene:DSE
Variant:p.H588R
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DSE

NM_013352.4:p.H588R

Associated Papers

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

Mizumoto S et al.

International Journal of Molecular Sciences, 2022

A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.

Ullah I et al.

Congenital Anomalies, 2021

The structure of human dermatan sulfate epimerase 1 emphasizes the importance of C5-epimerization of glucuronic acid in higher organisms.

Hasan M et al.

Chemical Science, 2021

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Lautrup CK et al.

Molecular Genetics & Genomic Medicine, 2020

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Kosho T et al.

Genes, 2019

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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."