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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DDOST

Variant:p.H143D

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DDOST

NM_005216.5:p.H143D

hg38:chr1:20655705 G>C

Associated Papers

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

Kas SM et al.

Scientific Reports, 2023

37848450 (PubMed )

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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."