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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARID1B

Variant:p.W2137*

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ARID1B

NM_001374828.1:p.W2137*

hg38:chr6:157207183 G>A

Associated Papers

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Schmetz A et al.

Human Genetics, 2024

38117302 (PubMed )

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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."