Varaico: Literature-Extracted Genetic Variants

Gene:CSMD1
Variant:p.T1385Splc
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CSMD1

NM_033225.6:p.T1385Splc

Associated Papers

CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies.

Zhang W et al.

Genes & Diseases, 2025

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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."