A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing

Dorin Trigubov, Vered Ofen-Glassner, Bar Levy, Adi Mory, Igal Wolman, Yuval Yaron*, Roee Birnbaum, Alina Kurolap

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)231-235
Number of pages5
JournalPrenatal Diagnosis
Volume45
Issue number2
DOIs
StatePublished - Feb 2025

Keywords

  • KIF14
  • Meckel syndrome 12
  • RNA analysis
  • alternative splicing
  • exonic variant
  • splice variant
  • variant reclassification

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