Varaico: Literature-Extracted Genetic Variants

Gene:NPL
Variant:p.R63C
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NPL

NM_030769.3:p.R63C

Associated Papers

Biosynthetic and genetic pathways related to sialic acid metabolism.

Huang S et al.

The Journal of Biological Chemistry, 2026

N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.

Da Silva A et al.

Science Advances, 2023

Recombinant human N-acetylneuraminate lyase as a tool to study clinically relevant mutant variants.

Cheng C et al.

Carbohydrate Research, 2022

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Wen XY et al.

Jci Insight, 2018

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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."