Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.E152K
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C1GALT1C1

NM_001011551.3:p.E152K

Associated Papers

CRISPR-screen identifies ZIP9 and dysregulated Zn2+ homeostasis as a cause of cancer-associated changes in glycosylation.

Rømer TB et al.

Glycobiology, 2023

COSMC mutations reduce T-synthase activity in advanced Alzheimer's disease.

Gollamudi S et al.

Alzheimer's & Dementia (new York, N. Y.), 2020

Biochemical characterization of functional domains of the chaperone Cosmc.

Hanes MS et al.

Plos One, 2017

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

New mutations in C1GALT1C1 in individuals with Tn positive phenotype.

Crew VK et al.

British Journal of Haematology, 2008

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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."