Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.K560_G563delFs
Back to variants list

ARID1B

NM_001374828.1:p.K560_G563delFs

Associated Papers

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

Coffin-Siris syndrome is a SWI/SNF complex disorder.

Tsurusaki Y et al.

Clinical Genetics, 2014

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

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y et al.

Nature Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."