Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.N103del1
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WAC

NM_016628.5:p.N103del1

Associated Papers

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Leonardi E et al.

Genes, 2020

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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."