Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.R409H
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P2RX2

NM_170682.4:p.R409H

Associated Papers

Next-generation sequencing for genetic testing of hearing loss populations.

Wang L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

Chen S et al.

Genetic Testing and Molecular Biomarkers, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."