Varaico: Literature-Extracted Genetic Variants

Gene:DDOST
Variant:p.R237H
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DDOST

NM_005216.5:p.R237H

Associated Papers

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.

Kas SM et al.

Scientific Reports, 2023

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

den Hollander B et al.

Frontiers in Neurology, 2021

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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."