Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.T344insFs
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A4GALT

NM_017436.7:p.T344insFs

Associated Papers

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

P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.

Westman JS et al.

Transfusion, 2013

Molecular basis for the p and P(k) phenotypes in three Chinese individuals.

Hong XZ et al.

Transfusion Medicine (oxford, England), 2013

Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.

Wang YC et al.

Transfusion Medicine (oxford, England), 2011

Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection.

Hellberg A et al.

British Journal of Haematology, 2004

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."