Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.F294fs
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FUT1

NM_001384359.1:p.F294fs

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

[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

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

Lin CL et al.

Clinical Laboratory, 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

Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual.

Wang L et al.

Transfusion, 2017

The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China.

Luo G et al.

Transfusion, 2013

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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."