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

Documents similaires

• Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly
  par: Hadas Miremberg, et autres
  Publié: (2024)
• Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome
  par: Mia B. Hodges, et autres
  Publié: (2025)
• Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly
  par: Roee Birnbaum, et autres
  Publié: (2024)
• Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
  par: Adi Botvinik, et autres
  Publié: (2026)
• Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features
  par: Rachel A. Veazey, et autres
  Publié: (2024)