Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.D163Y
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MECP2

NM_001110792.2:p.D163Y

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

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Fang X et al.

Molecular Genetics & Genomic Medicine, 2022

35318820 (PubMed )
Supplement: MGG3-10-e1917-s003.xlsx › Sheet1
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