Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R118L
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MECP2

NM_001110792.2:p.R118L

Associated Papers

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Gürsoy S et al.

Pediatric Neurology, 2025

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Zhang Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."