Associated Papers
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.
Terhune EA et al.
Genes, 2021
34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Joint mouse-human phenome-wide association to test gene function and disease risk.
Wang X et al.
Nature Communications, 2016
Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis.
Söderhäll C et al.
Plos Biology, 2007
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