Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R118R
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MECP2

NM_001110792.2:p.R118R

Associated Papers

CRISPR/Cas9 knock-in toward creating a Rett syndrome cell model with a synonymous mutation in the MECP2 gene.

Khalili Alashti S et al.

The Journal of Gene Medicine, 2020

Two novel mutations in the MECP2 gene in patients with Rett syndrome.

Khalili Alashti S et al.

Gene, 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."