Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R306P
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MECP2

NM_001110792.2:p.R306P

Associated Papers

MECP2 Variants in Males: More Common than Previously Appreciated.

Ananth A et al.

Pediatric Neurology, 2024

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage.

Collins BE et al.

Neuropsychiatric Disease and Treatment, 2022

The antitussive cloperastine improves breathing abnormalities in a Rett Syndrome mouse model by blocking presynaptic GIRK channels and enhancing GABA release.

Johnson CM et al.

Neuropharmacology, 2020

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

Wen Y et al.

Clinical Genetics, 2020

Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.

Crosson J et al.

American Journal of Medical Genetics. Part A, 2017

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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."