Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.D180insFs
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B3GALNT1

NM_003781.4:p.D180insFs

Associated Papers

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

Westman JS et al.

Transfusion, 2013

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

Hellberg A et al.

British Journal of Haematology, 2004

Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.

Hellberg A et al.

The Journal of Biological Chemistry, 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."