Varaico: Literature-Extracted Genetic Variants

Gene:DDOST
Variant:p.D119E
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DDOST

NM_005216.5:p.D119E

Associated Papers

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Starosta RT et al.

Orphanet Journal of Rare Diseases, 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."