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
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
The ABCC6 Transporter: A New Player in Biomineralization.
Favre G et al.
International Journal of Molecular Sciences, 2017
28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG et al.
Journal of Medical Genetics, 2007
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