Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.Y141S
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MECP2

NM_004992.4:p.Y141S

Associated Papers

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Valentino F et al.

Brain Sciences, 2021

34356170 (PubMed )
Supplement: brainsci-11-00936-s001.zip › Table_S4.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 › S_305L

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Demos M et al.

Frontiers in Neurology, 2019

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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."