Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.G730R
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ABCB6

NM_005689.4:p.G730R

Associated Papers

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

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

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Fukuda Y et al.

Nature Communications, 2016

27507172 (PubMed )
Supplement: ncomms12353-s1.pdf

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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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."