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Original Research

Published on 17 Jun 2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair

in Primary Immunodeficiencies

  • Steven Strubbe
  • Marieke De Bruyne
  • Ulrich Pannicke
  • Elien Beyls
  • Bart Vandekerckhove
  • Georges Leclercq
  • Elfride De Baere
  • Victoria Bordon
  • Anne Vral
  • Klaus Schwarz
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair
Frontiers in Immunology
doi 10.3389/fimmu.2021.674226
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  • 3 citations