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Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Authors

  1. Correspondence to Dr Thomas Smol; thomas.smol{at}chu-lille.fr
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Citation

Fauqueux J, Boussion S, Thuillier C, et al
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Publication history

  • Received May 30, 2024
  • Accepted August 15, 2024
  • First published August 24, 2024.
Online issue publication 
October 23, 2024

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