Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.T2147insFs
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ARID1B

NM_001374828.1:p.T2147insFs

Associated Papers

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

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

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D et al.

Human Molecular Genetics, 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."