Article

A novel missense mutation in the SLC26A4 gene in a chinese family with enlarged vestibular aqueducts

2022-02-08

Abstract excerpt

<h4>Background: </h4> SLC26A4 gene is closely related to enlarged vestibular aqueducts. Its homozygous mutation or compound heterozygous mutation may cause deafness and seriously affect the patient's life. As far as we know, this is the first reported pathogenic or probable pathogenic for the missense mutation. Our studies expand the mutation site of SLC26A4 gene and provide genetic counseling for the patient's fa...

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Literature Corpus work: 6c28d1fe-a068-5435-b365-8018f026de8e
DOI: 10.21203/rs.3.rs-1268645/v1

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