Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene. [electronic resource]
Producer: 20190523Description: 176 p. digitalISSN:- 1471-2350
- Alleles
- Cell Line, Tumor
- Colorectal Neoplasms, Hereditary Nonpolyposis -- diagnosis
- Early Detection of Cancer -- instrumentation
- Exons
- High-Throughput Nucleotide Sequencing
- Humans
- Mismatch Repair Endonuclease PMS2 -- analysis
- Neoplasm Proteins -- analysis
- Polymerase Chain Reaction -- methods
- Pseudogenes
- Sensitivity and Specificity
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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