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See Latest ArticlesHypo-Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms
Human Mutation, 02/18/09
Choi BY et al. - The authors observed moderate differential effects of hypo-functional variants upon exchange of HCO versus I- but their magnitude does not support a causal association with nonsyndromic EVA. However, these alleles could be pathogenic in trans configuration with a mutant allele in Pendred syndrome.
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