Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S178delFs
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MECP2

NM_001110792.2:p.S178delFs

Associated Papers

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Gall K et al.

Plos One, 2021

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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."