Varaico: Literature-Extracted Genetic Variants

Gene:ABO
Variant:p.K125Splc
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ABO

NM_020469.3:p.K125Splc

Associated Papers

Characterization of a novel AEL allele harboring a c.28 + 5G>A mutation on the ABO*A2.01 background: a study utilizing PacBio third-generation sequencing and functional assays.

Shao LN et al.

Frontiers in Immunology, 2024

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 novel c.28 + 1G > T mutation in the ABO*A1.02 allele that results in Ael phenotype.

Yu L et al.

Transfusion, 2021

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