Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1
Generalized pustular psoriasis patient with a heterozygous hypomorphic MPO variant refractory to intravenous spesolimab.
Ogawa Y et al.
The Journal of Dermatology, 2025
Mild generalised pustular psoriasis patient with a heterozygous hypomorphic MPO variant successfully treated with granulocyte and monocyte adsorption apheresis.
Takeichi T et al.
Experimental Dermatology, 2023
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2022
36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA et al.
The Journal of Experimental Medicine, 2022
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
27175599 (PubMed )
Supplement: oncotarget-07-39758-s005.xlsx › TableS4
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys
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