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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NGLY1

Variant:p.R112K

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NGLY1

NM_018297.4:p.R112K

hg38:chr3:25764223 C>T

Associated Papers

Positively charged cytoplasmic residues in corin prevent signal peptidase cleavage and endoplasmic reticulum retention.

Li H et al.

Communications Biology, 2025

39833422 (PubMed )

Supplement: 42003_2025_7545_MOESM1_ESM.pdf

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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."