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
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
38292474 (PubMed )
Supplement: mmc4.xlsx › HEK_DiseaseAnnotation
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Molecular insights into the human ABCB6 transporter.
Song G et al.
Cell Discovery, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
Lu C et al.
Journal of Dermatological Science, 2014
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
Liu H et al.
Plos One, 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
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui YX et al.
Plos One, 2013
ABCB6 mutations cause ocular coloboma.
Wang L et al.
American Journal of Human Genetics, 2012
Select a paper to view details