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Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.

Alina KurolapAdi MorySharon SimchoniKarina Krajden HaratzGustavo MalingerBirnbaum RoeeHagit Baris FeldmanYuval Yaron
Published in: Prenatal diagnosis (2022)
This information empowered the couple to make informed reproductive choices and opt for preimplantation genetic testing (PGT) for future pregnancies.
Keyphrases
  • health information
  • electronic health record
  • healthcare
  • mental health
  • preterm birth
  • current status
  • social media
  • big data
  • case control
  • gestational age
  • pregnancy outcomes
  • machine learning
  • artificial intelligence