Back to variants list
ARID1B
NM_001374828.1:p.P387_G400delFs
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
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
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
Select a paper to view details