Varaico: Literature-Extracted Genetic Variants

Gene:B3GALNT1
Variant:p.R145*
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B3GALNT1

NM_003781.4:p.R145*

Associated Papers

[A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene].

Lan X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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

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

Hong XZ et al.

Transfusion Medicine (oxford, England), 2013

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

Hellberg A et al.

British Journal of Haematology, 2004

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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."