Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.P152L
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MECP2

NM_004992.4:p.P152L

Associated Papers

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.

Chen E et al.

Genetics, 2025

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation.

Wen Z et al.

Molecular Autism, 2017

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.

Kammoun F et al.

Journal of Medical Genetics, 2004

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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."