Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.F294delFs
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FUT1

NM_001384359.1:p.F294delFs

Associated Papers

Genetic analysis and protein modeling evaluation of a novel FUT1 variant c.683T>C (p.Met228Thr) in a Chinese individual with para-Bombay phenotype.

He Y et al.

Transfusion, 2025

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Ying Y et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

[Para-Bombay phenotype due to bi-allelic heterozygous base deletions of FUT1 gene].

He Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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

A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A.

Lei H et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2021

Identification of a Case with Heterozygous Mutations in the FUT1 Gene Leading to a Para-Bombay Phenotype.

Lin CL et al.

Clinical Laboratory, 2019

ABO antigen levels on platelets of normal and variant ABO blood group individuals.

Xu X et al.

Platelets, 2019

Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype.

Er TK et al.

Clinical Laboratory, 2018

A Case of Para-Bombay Phenotype Caused by Homozygous Mutation of the FUT1 Gene.

Yu JK et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2017

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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."