Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.D133V
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MECP2

NM_001110792.2:p.D133V

Associated Papers

Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.

Zhai Y et al.

Human Mutation, 2021

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 › M_333R

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Bao XH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004

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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."