Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.A528delFs
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ARID1B

NM_001374828.1:p.A528delFs

Associated Papers

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419

Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.

Natsume T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2018

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Vals MA et al.

European Journal of Human Genetics : Ejhg, 2014

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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."