Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R344W
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MECP2

NM_004992.4:p.R344W

Associated Papers

Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate.

Chai Y et al.

Ibro Neuroscience Reports, 2023

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina-Solà M et al.

Molecular Autism, 2015

25969726 (PubMed )
Supplement: 13229_2015_17_MOESM2_ESM.xlsx › Table_S2

Molecular diagnostic dilemmas in Rett syndrome.

Zvereff V et al.

Brain & Development, 2012

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