Varaico: Literature-Extracted Genetic Variants

Gene:C1GALT1C1
Variant:p.A143V
Back to variants list

C1GALT1C1

NM_001011551.3:p.A143V

Associated Papers

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

Gollamudi S et al.

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

An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Preeprem T et al.

Biodata Mining, 2013

24365473 (PubMed )
Supplement: 1756-0381-6-24-S2.xlsx › Additional_Table_9

Epigenetic silencing of the chaperone Cosmc in human leukocytes expressing tn antigen.

Mi R et al.

The Journal of Biological Chemistry, 2012

New mutations in C1GALT1C1 in individuals with Tn positive phenotype.

Crew VK et al.

British Journal of Haematology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."