Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R145L
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MECP2

NM_001110792.2:p.R145L

Associated Papers

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.

Ben Said M et al.

Epilepsia Open, 2024

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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."