Article
Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
International journal of molecular sciences - 3 Dec 2023
Yun Yejin, Park Sang Soo, Lee Soyoung, Seok Heeyoung, Park Seongyeol, Lee Sang-Yeon
Abstract excerpt
The ClC-K channels CLCNKA and CLCNKB are crucial for the transepithelial transport processes required for sufficient urinary concentrations and sensory mechanoelectrical transduction in the cochlea. Loss-of-function alleles in these channels are associated with various clinical phenotypes, ranging from hypokalemic alkalosis to sensorineural hearing loss (SNHL) accompanied by severe renal conditions, i.e.,...
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