ATP6V1B1-A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis.
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- Record sourced from PubMed, PMID 42376910.
- Also identified by DOI 10.1002/lary.70716.
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Abstract
This study aims to provide new insights in understanding the genetic association between sensorineural hearing loss with distal renal tubular acidosis (RTA) and to add ATP6V1B1 to the list of known genes causing "Pendred ear phenotype".