Associated Papers
Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically.
van der Sluijs PJ et al.
Genome Medicine, 2025
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A et al.
Human Genetics, 2024
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