Varaico: Literature-Extracted Genetic Variants

Gene:DSE
Variant:p.V938D
Back to variants list

DSE

NM_013352.4:p.V938D

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."