Annotation Detail

Information
Associated Genes
XPC
Associated Variants
XPC MUTATION
XPC MUTATION
Associated Disease
Spastic syndrome
Source Database
DisGeNET
Description
Expression of specific TALE nuclease in the presence of a repair matrix containing a long stretch of homologous wild type XPC sequences allowed us a successful gene correction of the original TG deletion found in numerous North African XP patients.
Pubmed
26255934
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs