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Updated: Feb 3, 2026

07:15
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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Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition
Leslie G Biesecker1, Robert L Nussbaum2,3, Heidi L Rehm4,5
1Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
JAMA
|October 17, 2018
Abstract
No abstract available in PubMed .
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