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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STT3B

Variant:p.R691_E692Splc

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STT3B

NM_178862.3:p.R691_E692Splc

hg38:chr3:31626132 G>A

Associated Papers

Screening for OST deficiencies in unsolved CDG-I patients.

Vleugels W et al.

Biochemical and Biophysical Research Communications, 2009

19835842 (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."