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Updated: May 16, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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Functional Spectrum of USP7 Pathogenic Variants in Hao-Fountain Syndrome: Insights into the Enzyme's Activity,

Emilie J Korchak1, Mona Sharafi2,3, Isabella Jaen Maisonet2,3

  • 1Department of Molecular Biology and Biophysics, UCONN Health, Farmington, Connecticut 06032, United States.

Biorxiv : the Preprint Server for Biology
|April 1, 2025
PubMed
Abstract

Keywords:
Hao-Fountain syndromeNMRUSP7de-ubiquitinationenzyme activationenzyme kineticsneurodevelopmental disorderpathogenic variantspatient mutations

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