The critical role of transcript analysis for refining the classification of variants associated with constitutional disorders.
Alamut™️ Visual Plus user presentation at the ASHG 2023 Annual Meeting.
Presented by: Kai Lee Yap, PhD, FACMG,
Director of Molecular Diagnostics, Ann & Robert H. Lurie Children’s Hospital of Chicago, Assistant Professor of Pathology, Northwestern University Feinberg School of Medicine.