Varaico: Literature-Extracted Genetic Variants

Gene:MECP2
Variant:p.G252fs
Back to variants list

MECP2

NM_004992.4:p.G252fs

Associated Papers

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

Inuzuka LM et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L et al.

Journal of Human Genetics, 2016

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."