Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.R68*
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B3GALNT1

NM_003781.4:p.R68*

Associated Papers

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 013

Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.

Westman JS et al.

The Journal of Biological Chemistry, 2015

Human genetic disorders of sphingolipid biosynthesis.

Astudillo L et al.

Journal of Inherited Metabolic Disease, 2015

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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