RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G)

Ann Lab Med. 2022 May 1;42(3):380-383. doi: 10.3343/alm.2022.42.3.380.

Authors

Rae Na¹, Jinyoung Hong¹, Hyunjung Gu¹, Woochang Lee¹, Jae-Lyun Lee², Sail Chun¹, Won-Ki Min¹

Affiliations

¹ Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
² Department of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

No abstract available

Publication types

Letter

MeSH terms

Checkpoint Kinase 2 / genetics
Exome Sequencing
Genetic Predisposition to Disease*
Humans
Mutation
RNA Splice Sites*
Sequence Analysis, RNA
Virulence

Substances

RNA Splice Sites
Checkpoint Kinase 2
CHEK2 protein, human