Varaico: Literature-Extracted Genetic Variants

Gene:ARID1B
Variant:p.E2234delFs
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ARID1B

NM_017519.3:p.E2234delFs

Associated Papers

Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature.

Ciliberto M et al.

American Journal of Medical Genetics. Part A, 2023

The ARID1B phenotype: what we have learned so far.

Santen GW et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

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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."