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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NGLY1

Variant:p.N146S

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NGLY1

NM_018297.4:p.N146S

hg38:chr3:25764121 T>C

Associated Papers

Minimal structural and glycosylation requirements for ST6Gal I activity and trafficking.

Chen C et al.

Glycobiology, 2000

10764842 (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."