Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.F2234delFs
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ARID1B

NM_001374828.1:p.F2234delFs

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

Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.

Ciliberto M et al.

American Journal of Medical Genetics. Part A, 2023

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

Verberne EA et al.

American Journal of Medical Genetics. Part A, 2022

Creating a neural specific chromatin landscape by npBAF and nBAF complexes.

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

Santen GW et al.

Human Mutation, 2013

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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."