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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.
Koji M Nishiguchi, Carlo Rivolta
PLoS ONE · 2012
doi:10.1371/journal.pone.0041902
Cited by papers we hold 3
- Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies · 2013Corrected
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease · 2013No notice
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine · 2013No notice
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