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Inherited TBX4 frameshifting variants predicted to escape nonsense mediated decay in two families with variable

Shruti A Pande1, Hiuling Chan Joiner1, Przemyslaw Szafranski1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

Human Genomics
|May 1, 2026
PubMed
Abstract

Keywords:
Congenital alveolar dysplasiaGain-of-functionLoss-of-functionPremature stop codon-mediated decaySmall patella syndromeVariable expressivity

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