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
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30349098 (PubMed )
Supplement: 41436_2018_330_MOESM1_ESM.pdf
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