Diseases · Entity Annotation Prototype (beta)

1articles mentioning diseases

1disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: inner ear malformations ×

inner ear malformations

This disease is selected. Its supporting articles are shown below.

inner ear malformations1

Articles mentioning inner ear malformations

1 articles · page 1 of 1

Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss

jmedgenet · abstract · 2025-07-21 · 1 matching annotations

85.9%

hereditary hearing loss inner ear malformations American College of Medical Genetics and Genomics Association for Molecular Pathology

…Purpose Variants in the human SLC26A4 gene are a major cause of hereditary hearing loss. Many splice site variants have been identified, but their path…

Browse diseases

inner ear malformations

Articles mentioning inner ear malformations

Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss