Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.P251L
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A4GALT

NM_017436.7:p.P251L

Associated Papers

Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.

Ryu D et al.

International Journal of Molecular Sciences, 2023

37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P1

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

Westman JS et al.

Transfusion, 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

[A rare blood group: p phenotype].

De La Vega Elena CD et al.

Medicina, 2009

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

Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals.

Furukawa K et al.

The Journal of Biological Chemistry, 2000

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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."