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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STT3A

Variant:p.S30Splc

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STT3A

NM_152713.5:p.S30Splc

hg38:chr11:125596010 G>T

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."