Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
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
The genomic landscape of blood groups in Indigenous Australians in remote communities.
Jadhao S et al.
Transfusion, 2022
35403234 (PubMed )
Supplement: TRF-62-1110-s001.xlsx › Supplementary_Table_4
ABCB6 polymorphisms are not overly represented in patients with porphyria.
Farrell CP et al.
Blood Advances, 2022
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11
Molecular insights into the human ABCB6 transporter.
Song G et al.
Cell Discovery, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092
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
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
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