Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R97C
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MECP2

NM_001110792.2:p.R97C

Associated Papers

MECP2 Rare Variants in Boys with Central Precocious Puberty.

Canton APM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.

Gomathi M et al.

Molecular Neurobiology, 2024

Endocrine disorders in Rett syndrome: a systematic review of the literature.

Pepe G et al.

Frontiers in Endocrinology, 2024

Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.

Canton APM et al.

The Lancet. Diabetes & Endocrinology, 2023

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
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