Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.G466S
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ABCB6

NM_001349828.2:p.G466S

Associated Papers

Identification of novel genetic variations in ABCB6 and GRN genes associated with HIV-associated lipodystrophy.

Singh H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.

Guimarães CP et al.

Molecular Genetics and Metabolism, 2002

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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."