Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.E270delFs
Back to variants list

MECP2

NM_001110792.2:p.E270delFs

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Clinical and molecular evaluation of 16 patients with Rett syndrome.

Zengin-Akkuş P et al.

The Turkish Journal of Pediatrics, 2018

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C et al.

European Journal of Medical Genetics, 0

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."