Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.R68*
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C1GALT1C1

NM_001011551.3:p.R68*

Associated Papers

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.

Aryal RP et al.

Journal of Inherited Metabolic Disease, 2025

Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?

Li GS et al.

Bmc Medical Genetics, 2009

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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."