Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T203M
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MECP2

NM_004992.4:p.T203M

Associated Papers

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.

Chen E et al.

Genetics, 2025

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.

Kharrat M et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2019

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Das DK et al.

Gene, 2013

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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."