Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.T111A
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MECP2

NM_001110792.2:p.T111A

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 › 4799

Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.

Ganakammal SR et al.

Peerj, 2019

31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_

MECP2 Mutations in the Rett Syndrome Patients from South India.

Anitha A et al.

Neurology India, 0

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