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Generation and characterization of a P2rx2 V6OL mouse model for DFNA41

Chen, XY; Abad, C; Chen, ZY; Young, JI; Gurumurthy, CB; Walz, K; Liu, XZ

Liu, XZ (corresponding author), Univ Miami, Miller Sch Med, 1120 NW 14th St,5th Floor, Miami, FL 33136 USA.

HUMAN MOLECULAR GENETICS, 2021; 30 (11): 985

Abstract

P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation w......

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