Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R280W
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MECP2

NM_001110792.2:p.R280W

Associated Papers

Methyl-CpG-binding protein 2 mediates overlapping mechanisms across brain disorders.

Bach S et al.

Scientific Reports, 2020

33335218 (PubMed )
Supplement: 41598_2020_79268_MOESM1_ESM.xlsx › Table_S4

Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.

Enikanolaiye A et al.

Genome Research, 2020

32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › J_157N
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