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Updated: May 8, 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

Pathogenic variants in non-protein-coding sequences

P Makrythanasis1, S E Antonarakis

  • 1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

Clinical Genetics
|September 7, 2013
PubMed

Keywords:
enhancerslncRNAmiRNAnon-coding sequencespathogenic variantspromoters

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