Varaico: Literature-Extracted Genetic Variants

Gene:ARID1A
Variant:p.V2169_L2170ins0
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ARID1A

NM_006015.6:p.V2169_L2170ins0

Associated Papers

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E et al.

Nature Communications, 2018

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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."