Varaico: Literature-Extracted Genetic Variants

Gene:FMR1
Variant:p.K425_E426Splc
Back to variants list

FMR1

NM_002024.6:p.K425_E426Splc

Associated Papers

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

Psoni S et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010

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."