Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.R243H
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GBGT1

NM_021996.6:p.R243H

Associated Papers

Search for germline gene variants in colorectal cancer families presenting with multiple primary colorectal cancers.

Försti A et al.

International Journal of Cancer, 2025

39654522 (PubMed )
Supplement: IJC-156-1393-s002.xlsx › 3A._Missense

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

An integrated personal and population-based Egyptian genome reference.

Wohlers I et al.

Nature Communications, 2020

32948767 (PubMed )
Supplement: 41467_2020_17964_MOESM18_ESM.xlsx › Supplementary_Data_15

Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.

Abusibaa WA et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2019

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

GBGT1 is allelically diverse but dispensable in humans and naturally occurring anti-FORS1 shows an ABO-restricted pattern.

Hult AK et al.

Transfusion, 2018

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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."