Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.L225M
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MECP2

NM_001110792.2:p.L225M

Associated Papers

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

Chen E et al.

Genetics, 2025

40546018 (PubMed )
Supplement: iyaf121_supplementary_data.zip › Supplemental_Data_1_GENETICS-2025-308053.xlsx › Variant_Info

Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.

Ganakammal SR et al.

Peerj, 2019

31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
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