Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.A91T
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MECP2

NM_001110792.2:p.A91T

Associated Papers

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

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC et al.

Human Mutation, 2019

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.

Stosser MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."