Associated Papers
Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene.
Li Q et al.
American Journal of Medical Genetics. Part A, 2025
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1
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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