Article

Exploring the Missing Heritability in Subjects With Hearing Loss, Enlarged Vestibular Aqueducts, and A Single or No Pathogenic SLC26A4 Variant

2021-06-04

Abstract excerpt

<title>Abstract</title> <p>Pathogenic variants in <italic>SLC26A4</italic> have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). <italic>SLC26A4</italic> is the second most frequently mutated gene in arHL. Despite the strong genotype-phenotype correlation, a significant part of <italic>SLC26A4</italic> cases remains genetically unresolv...

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Literature Corpus work: 0b70e33b-f678-58d0-a10e-054f27ae3007
DOI: 10.21203/rs.3.rs-577715/v1

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