Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.M1L
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DEPDC5

NM_001242896.3:p.M1L

Associated Papers

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

Ribierre T et al.

The Journal of Clinical Investigation, 2018

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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."