Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen, Jane H; Jensen, Sara B; Tümer, Zeynep; Hansen, Thomas V O

Frederiksen, Jane H; Jensen, Sara B; Tümer, Zeynep; Hansen, Thomas V O.

Affiliation

Frederiksen JH; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.
Jensen SB; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.
Tümer Z; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.
Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, DK-2100 Copenhagen, Denmark.

Int J Mol Sci ; 22(16)2021 Aug 11.

Article in En | MEDLINE | ID: mdl-34445333

Subject(s)

DNA-Binding Proteins/genetics; Genetic Techniques; Animals; DNA-Binding Proteins/classification; DNA-Binding Proteins/physiology; Genetic Testing/methods; Humans; Mutant Proteins/classification; Mutant Proteins/genetics; Mutant Proteins/physiology; Protein Isoforms/classification; Protein Isoforms/genetics; Protein Isoforms/physiology; RNA Splicing/genetics

Key words

Lynch syndrome; MSH6; functional assay; mismatch repair; variant classification; variant interpretation; variant of uncertain significance

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Techniques / DNA-Binding Proteins Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Int J Mol Sci Year: 2021 Type: Article Affiliation country: Denmark

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