Varaico: Literature-Extracted Genetic Variants

Gene:ABO
Variant:p.C52Splc
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ABO

NM_020469.3:p.C52Splc

Associated Papers

Identification of a novel B allele with c.155+5G>T in the ABO gene associated with Bweak phenotype.

Zhang Y et al.

Transfusion, 2025

Comprehensive Annotation of Complete ABO Alleles and Resolution of ABO Variants by an Improved Full-Length ABO Haplotype Sequencing.

Ying Y et al.

Clinical Chemistry, 2025

Identification of a novel c.259G > T mutation in the ABO*B.01 allele giving rise to a B3 phenotype.

Liu H et al.

Transfusion, 2022

Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes.

Hong X et al.

Journal of Translational Medicine, 2021

A 24-base pair deletion in the ABO gene causes a hereditary splice site defect: a novel mechanism underlying ABO blood group O.

Matzhold EM et al.

Transfusion, 2020

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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."