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Updated: Feb 22, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Filiz Basak Cengiz1, Rasim Yilmazer2, Levent Olgun3

  • 1John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.

International Journal of Pediatric Otorhinolaryngology
|October 2, 2017
PubMed
Abstract

Keywords:
Hearing lossSLC26A4Whole exome sequencing

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