Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.V288M
Back to variants list

MECP2

NM_001110792.2:p.V288M

Associated Papers

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S2_new.xlsx › Sheet1

Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients.

Karimzadeh P et al.

Iranian Journal of Child Neurology, 2019

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_
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."