Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.Y316*
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FUT1

NM_001384359.1:p.Y316*

Associated Papers

Challenges in the transfusion management of a 15-month-old pediatric patient with Bombay blood group phenotype.

Malhotra S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2023

[Serological and molecular biological analysis of an individual with para-Bombay blood group due to homozygous c.948C>A variant of FUT1 gene].

Ma C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

Genetic regulation of plasma von Willebrand factor levels in health and disease.

Swystun LL et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

ABO phenotype-protected reproduction based on human specific α1,2 L-fucosylation as explained by the Bombay type formation.

Arend P

Immunobiology, 2018

Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.

Chen DP et al.

Annals of Clinical and Laboratory Science, 2004

The polymorphisms of fucosyltransferases.

Koda Y et al.

Legal Medicine (tokyo, Japan), 2001

Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.

Fernandez-Mateos P et al.

Vox Sanguinis, 1998

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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."