Associated Papers
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.
Smol T et al.
Hgg Advances, 2025
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.
Parenti I et al.
Frontiers in Neuroscience, 2021
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
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