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Article

Generation and characterization of a P2rx2 V60L mouse model for DFNA41.

Human molecular genetics - 31 May 2021

Chen Xiaoya, Abad Clemer, Chen Zheng-Yi, Young Juan I, Gurumurthy Channabasavaiah B, Walz Katherina, Liu Xue Zhong

Abstract excerpt

P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation was previously identified in two unrelated Chinese families, as the cause of human DFNA41, a form of dominant, early-onset and progressive sensorineural hearing loss. We generated and characterized a knock-in mouse model based on human p.V60L mutation that recapitulates...

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Share to Adenosine Triphosphate
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hair Cells, Auditory, Inner

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Identifiers

PMID: 33791800
DOI: 10.1093/hmg/ddab077
PMCID: PMC8170843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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