Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene
ABSTRACT The rapid development and clinical application of sequencing technologies enable the genetic diagnosis of inherited deafness. P2RX2, as the gene responsible for autosomal dominant non‐syndromic deafness‐41 (DFNA41), has been proven to be essential for life‐long normal hearing and for the pr...
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Veröffentlicht in: | American journal of medical genetics. Part A 2025-01, Vol.197 (1), p.e63877-n/a |
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