Related Experiment Video

Updated: Aug 26, 2025

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

Published on: January 16, 2019

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De novo variants are a common cause of genetic hearing loss

Miles J Klimara1, Carla Nishimura1, Donghong Wang1

  • 1Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 4, 2022
PubMed
Abstract

Keywords:
De novo variantDeafnessGenetic variantHearing loss

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