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

Session:
#8031
Date:
Wednesday, Oct 15, 2025 2:30pm – 4:30pm
Conference:
ASHG 2025
Authors:
Holly Lydigsen, Nora Urraca, Roya Mostafavi, Shoji Ichikawa, Victoria Suslovitch
Collaborators:
Abstract Poster