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
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808834 (PubMed )
Supplement: media-2.xlsx › pnSomatic_supplement_tableS2
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S5__MITNGS_S5_
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
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
Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.
Di Pierro E et al.
Diagnostics (basel, Switzerland), 2022
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
34553687 (PubMed )
Supplement: elife-69808-fig5-data3.xlsx › Sheet1
Molecular insights into the human ABCB6 transporter.
Song G et al.
Cell Discovery, 2021
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
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