Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K147*
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MECP2

NM_001110792.2:p.K147*

Associated Papers

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

A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.

Donzel-Javouhey A et al.

American Journal of Medical Genetics. Part A, 2006

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

Miltenberger-Miltenyi G et al.

Human Mutation, 2003

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

Beyer KS et al.

Human Genetics, 2002

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP et al.

Human Molecular Genetics, 2000

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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."