Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.V217F
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FUT1

NM_001384359.1:p.V217F

Associated Papers

FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.

Soejima M et al.

Scientific Reports, 2023

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

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

Molecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene.

Cai XH et al.

Blood Transfusion = Trasfusione Del Sangue, 2011

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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."