Article

Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations

2024-06-11

Abstract excerpt

<title>Abstract</title> <p>Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital deafness. Most patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for geneti...

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Literature Corpus work: 3d527343-f8dc-517b-9e7a-8eae5f008f03
DOI: 10.21203/rs.3.rs-4474071/v1

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