Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S68*
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MECP2

NM_004992.4:p.S68*

Associated Papers

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.

Brito F et al.

Frontiers in Genetics, 2024

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › J_136N

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA et al.

American Journal of Medical Genetics. Part A, 2013

A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing.

Long SW et al.

Bioscience Reports, 2011

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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."