Varaico: Literature-Extracted Genetic Variants

Gene:IRF2
Variant:p.S321delFs
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IRF2

NM_002199.4:p.S321delFs

Associated Papers

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."