Varaico: Literature-Extracted Genetic Variants

Gene:DDB1
Variant:p.E213K
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DDB1

NM_001923.5:p.E213K

Associated Papers

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Vos N et al.

Human Genetics, 2024

Maternal synapsin autoantibodies are associated with neurodevelopmental delay.

Bünger I et al.

Frontiers in Immunology, 2023

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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."