Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.K51insFs
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MECP2

NM_001110792.2:p.K51insFs

Associated Papers

Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.

Gomathi M et al.

Molecular Neurobiology, 2024

Highlighting novel genes associated with the classical Rett syndrome patient from India.

Mohan G et al.

Genes & Diseases, 2022

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Szafranski P et al.

European Journal of Human Genetics : Ejhg, 2015

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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."