Associated Papers
A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
Wagenknecht JB et al.
Biorxiv : the Preprint Server for Biology, 2025
40667354 (PubMed )
Supplement: media-2.xlsx › Table_S1_Supplement
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
35918752 (PubMed )
Supplement: 12920_2022_1321_MOESM3_ESM.xlsx › Supplemental_Table_3
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
Geographic distribution of rare variants associated with age-related macular degeneration.
Geerlings MJ et al.
Molecular Vision, 2018
Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1).
Létourneau IJ et al.
Pharmacogenetics and Genomics, 2005
Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.
Conseil G et al.
Pharmacogenetics and Genomics, 2005
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