Varaico: Literature-Extracted Genetic Variants

Gene:STT3B
Variant:p.K513_A514Splc
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STT3B

NM_178862.3:p.K513_A514Splc

Associated Papers

Construction of green fluorescence protein mutant to monitor STT3B-dependent N-glycosylation.

Kitajima T et al.

The Febs Journal, 2018

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Bastaki F et al.

Annals of Human Genetics, 2018

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Shrimal S et al.

Human Molecular Genetics, 2013

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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."