Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.A546_G549delFs
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ARID1B

NM_001374828.1:p.A546_G549delFs

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

Autism spectrum disorder and Coffin-Siris syndrome-Case report.

Milutinovic L et al.

Frontiers in Psychiatry, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."