Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.M37V
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A4GALT

NM_017436.7:p.M37V

Associated Papers

Unveiling Novel and Rare Variants in the α-1,4-Galactosyltransferase Gene Leading to Rare p Phenotype in Indian Patients.

Kshirsagar P et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2025

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

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

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

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

Novel A4GALT gene variation with rare p phenotype in a compound heterozygous Chinese individual.

Chen Q et al.

Transfusion, 2021

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

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

Li X et al.

Transfusion, 2017

Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.

Lane WJ et al.

Transfusion, 2016

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

Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype.

Koda Y et al.

Transfusion, 2002

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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."