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Updated: Oct 19, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic variant interpretation: a primer for clinicians

Varun Kaushik1,2, John-Paul Plazzer2, Ingrid Winship3,4

  • 1The Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.

Internal Medicine Journal
|September 20, 2021
PubMed

Keywords:
Lynch syndromefamilial cancergenetic interpretationmismatch repair

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