Associated Papers
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R et al.
Human Mutation, 2019
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