Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.C2055Y
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ARID1B

NM_001374828.1:p.C2055Y

Associated Papers

The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Prada E et al.

Genes, 2025

39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Prada E et al.

Italian Journal of Pediatrics, 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

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Aleo S et al.

Frontiers in Cell and Developmental Biology, 2020

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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."