Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.A20D
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C1GALT1C1

NM_001011551.3:p.A20D

Associated Papers

Mucin-type O-glycans regulate proteoglycan stability and chondrocyte maturation.

Dong X et al.

Biorxiv : the Preprint Server for Biology, 2025

GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

Weintraub G et al.

Database : the Journal of Biological Databases and Curation, 2024

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.

Erger F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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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."