Varaico: Literature-Extracted Genetic Variants

Gene:STT3A
Variant:p.S30Splc
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STT3A

NM_152713.5:p.S30Splc

Associated Papers

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Sabry S et al.

Orphanet Journal of Rare Diseases, 2016

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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."