Varaico: Literature-Extracted Genetic Variants

Gene:A4GALT
Variant:p.S100L
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A4GALT

NM_017436.7:p.S100L

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

Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family.

Mo C et al.

Transfusion, 2024

Deletion in the A4GALT Gene Associated with Rare "P null" Phenotype: The First Report from India.

Shastry S et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

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

Westman JS et al.

Transfusion, 2014

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

Westman JS et al.

Transfusion, 2013

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype.

Hellberg A et al.

Transfusion, 2008

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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."