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
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ et al.
Genetics in Medicine Open, 2024
39669611 (PubMed )
Supplement: mmc1.pdf
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ et al.
Genes, 2021
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