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Findings demonstrate gain-of-function effects in a novel GRHL2 variant in hearing loss, suggesting expanded genotype-phenotype implications.
Our findings broaden the GRHL2 mutational spectrum, support a gain-of-function mechanism in DFNA28, and establish GRHL2 as a gene associated with low-to-mid frequency HL, expanding known genotype-phenotype correlations.
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Ma et al. (2025) studied this question.
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