Laboratory Medicine Online

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Result: 2

Review Article | 2022-07-01
Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes

Yu Jeong Choi, M.D., Boyeon Kim, M.D., Yoonjung Kim, M.D., Saeam Shin, M.D. , Kyung-A Lee, M.D.

https://doi.org/10.47429/lmo.2022.12.3.145
Lab Med Online 2022; 12(3): 145-158
Keywords:
Functional assay, Variant interpretation, Hereditary cancer, Variant of uncertain significance

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Brief Report | 2022-04-01
Re-evaluation of the LDLR Gene Variants of Uncertain Significance Using ClinGen Guideline

Changhee Ha, M.D., Hyun-Seung Lee, M.D., Hyung-Doo Park, M.D.

https://doi.org/10.47429/lmo.2022.12.2.116
Lab Med Online 2022; 12(2): 116-121
Keywords:
Clinical Genome Resource, Familial hypercholesterolemia, Guideline, LDLR, Variant of uncertain significance

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