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Updated: Aug 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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

Published on: January 16, 2019

The quality of media reports on discoveries related to human genetic diseases

Neil A Holtzman1, Barbara A Bernhardt, Eliza Mountcastle-Shah

  • 1Genetics and Public Policy Studies, Institute of Genetic Medicine, The Johns Hopkins Medical Institutions, Baltimore, MD 21209, USA. nholtzma@jhsph.edu

Community Genetics
|August 23, 2005
PubMed
Abstract

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