Related Experiment Video

Updated: Sep 9, 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

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic

Maureen Jacob1, Susann Badmann1, Stefania Bigoni2

  • 1Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.

Clinical Genetics
|September 8, 2026
PubMed

Keywords:
NUSAP1microcephalynonsense‐mediated decayprotein‐truncating variants

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