Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.
Gasparri F et al.
British Journal of Pharmacology, 2022
35285517 (PubMed )
Supplement: BPH-179-3859-s004.xlsx › Genetic_Variations
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