Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.S2155_L2158delFs
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ARID1B

NM_001374828.1:p.S2155_L2158delFs

Associated Papers

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.

Bosch E et al.

Human Genetics, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

van der Sluijs PJ et al.

Genetics in Medicine Open, 2024

39669611 (PubMed )
Supplement: mmc1.pdf

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

Vasileiou G et al.

American Journal of Human Genetics, 2015

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer J et al.

American Journal of Human Genetics, 2012

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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."