A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
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Gallon R, et al.
Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6.
Hum Mutat. 2019.
PMID: 30740824
Free PMC article.