Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.T329T
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A4GALT

NM_017436.7:p.T329T

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table11

A case report of a rare p phenotype individual and a review of molecular biological analysis of p phenotype in the Chinese population.

Wei X et al.

Transfusion Medicine (oxford, England), 2025

Novel A4GALT Variants Cause Rare p Phenotype and Recurrent Pregnancy Loss in a Chinese Individual.

Li G et al.

American Journal of Medical Genetics. Part A, 2025

Homozygosity for a novel A4GALT allele resulting in the rare p phenotype in an Indian blood donor.

Tilley LA et al.

Vox Sanguinis, 2025

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

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

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 006

A novel P1PK allele in two Bangladeshi sisters with a history of spontaneous abortion: A4GALT*02N(951C).

Floch A et al.

Transfusion, 2021

Novel A4GALT gene variation with rare p phenotype in a Chinese family.

Qiu F et al.

Transfusion, 2021

P-Null Phenotype Due to a Rare Frame-Shift Mutation and with Allo-Anti-PP1Pk Causing a Severe Hemolytic Transfusion Reaction: A Case Report with Clinical Management.

Kanani AN et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2021

A novel mutation in A4GALT was identified in a Chinese individual with p phenotype.

Li X et al.

Transfusion, 2017

Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.

Westman JS et al.

Transfusion, 2014

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

Hellberg A et al.

Bmc Genetics, 2005

Additional molecular bases of the clinically important p blood group phenotype.

Hellberg A et al.

Transfusion, 2003

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