Session # 8031W

RNA splicing analysis reclassified two variants of uncertain significance in an autosomal recessive Noonan syndrome case

• Authors: Nora Urraca; Holly Lydigsen; Shoji Ichikawa; Victoria Suslovitch; Roya Mostafavi
• Collaborators: Le Bonheur Children’s Hospital; University of Tennessee Health Science Center
• Conference: ASHG 2025
• Date: Wednesday, Oct 15, 2025 2:30pm - 4:30pm