Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.F29del1
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ABCB6

NM_005689.4:p.F29del1

Associated Papers

Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum.

Egan ES et al.

Communications Biology, 2018

30271928 (PubMed )
Supplement: 42003_2018_46_MOESM1_ESM.pdf

ABCB6, an ABC Transporter Impacting Drug Response and Disease.

Boswell-Casteel RC et al.

The Aaps Journal, 2017

Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.

Haer-Wigman L et al.

Transfusion, 2014

Alleles of the LAN blood group system: molecular and serologic investigations.

Reid ME et al.

Transfusion, 2014

Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.

Koszarska M et al.

Plos One, 2014

The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan- blood type.

Saison C et al.

Vox Sanguinis, 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."