Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.S385_L395delFs
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MECP2

NM_001110792.2:p.S385_L395delFs

Associated Papers

A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.

Jülich K et al.

The Journal of Pediatrics, 2009

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

Schüle B et al.

American Journal of Human Genetics, 2007

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

Miltenberger-Miltenyi G et al.

Human Mutation, 2003

Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.

Nagarajan RP et al.

Epigenetics, 0

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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."