Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.Q122*
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MECP2

NM_001110792.2:p.Q122*

Associated Papers

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

Dong M et al.

Frontiers in Pediatrics, 2022

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 › A_252LL

Novel and de novo mutations in pediatric refractory epilepsy.

Liu J et al.

Molecular Brain, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."