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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NXPE1

Variant:p.G353R

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NXPE1

NM_001395504.1:p.G353R

hg38:chr11:114522930 C>G

Associated Papers

Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study.

Samarkhanova D et al.

Genes, 2025

41153437 (PubMed )

NXPE1 alters the sialoglycome by acetylating sialic acids in the human colon.

Lee BS et al.

Nature Communications, 2025

40425538 (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."