Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.L386fs
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MECP2

NM_004992.4:p.L386fs

Associated Papers

Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing.

Abbott M et al.

American Journal of Medical Genetics. Part A, 2024

A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration.

Ehrhart F et al.

Scientific Data, 2021

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Bach S et al.

Scientific Reports, 2020

33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome.

Takeshita E et al.

Human Genome Variation, 2019

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.

Nectoux J et al.

Journal of Cellular and Molecular Medicine, 2010

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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."