Some pathogenic SETX variants are partially conserved during evolution
Author:
Funder
Higher Education Commision, Pakistan
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference11 articles.
1. A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping;Arif;JAMA Neurol,2013
2. Becherel OJ, Yeo AJ, Stellati A, et al: Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing. PLoS Genet 9: e1003435, 2013.
3. Improved inherited peripheral neuropathy genetic diagnosis by whole‐exome sequencing;Drew;Mol. Genet. Genomic Med.,2015
4. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2;Fogel;Neurology,2006
5. SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2;Ghrooda;Parkinson. Relat. Disord.,2012
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