Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT2
Variant:p.C466R
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B4GALNT2

NM_153446.3:p.C466R

Associated Papers

Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database.

Kim TY et al.

Transfusion, 2024

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.

Li Y et al.

Jci Insight, 2022

Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.

Stenfelt L et al.

International Journal of Molecular Sciences, 2022

Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.

Stenfelt L et al.

Biochemistry and Biophysics Reports, 2019

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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."