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Updated: Jun 27, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Genetic testing in the neuromuscular clinic
1From the Departments of Neurology and Pathology, University of Utah School of Medicine, and Eccles Institute of Human Genetics, University of Utah, Salt Lake City.
Abstract:
An increasing number of genetic tests arc available to the neuromuscular clinician, reflecting a growing body of knowledge regarding the molecular etiologies of neuromuscular disease. Effective use of these tests requires an understanding of then usefulness, including their limitations. This article presents a summary of commonly used tests, with recommendations to guide the clinician in their appropriate use.
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