Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.R174*
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MECP2

NM_001110792.2:p.R174*

Associated Papers

MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.

Dennys CN et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2024

38876822 (PubMed )
Supplement: mmc2.pdf

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_92N
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