Varaico: Literature-Extracted Genetic Variants

Gene:CA1
Variant:p.R255*
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CA1

NM_001128831.4:p.R255*

Associated Papers

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Vermudez SAD et al.

Neuroscience, 2026

Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome.

Li Y et al.

Biorxiv : the Preprint Server for Biology, 2025

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Vermudez SAD et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Collins BE et al.

Neuropsychiatric Disease and Treatment, 2022

Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2.

Lyst MJ et al.

Cell Reports, 2018

Rett syndrome: exploring the autism link.

Percy AK

Archives of Neurology, 2011

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation.

Jentarra GM et al.

Bmc Neuroscience, 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."