Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.Y316*
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FUT1

NM_001384359.1:p.Y316*

Associated Papers

Analysis of the molecular mechanism and pedigree investigation of para-Bombay phenotype caused by combined mutations at position h649 and h768 of FUT1 gene.

Sun X et al.

Blood Transfusion = Trasfusione Del Sangue, 2022

[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

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."