Santander, Cindy G
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9

An LDLR missense variant poses high risk of familial hyperc..:

Jørsboe, Emil ; Andersen, Mette K. ; Skotte, Line...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100118 , 2022
 
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14

A novel splice-affecting HNF1A variant with large populatio..:

Thuesen, Anne Cathrine ; Stæger, Fredrik Filip ; Kaci, Alba...
Thuesen, A. C. B., Stæger, F. F., Kaci, A., Solheim, M. H., Aukrust, I., Jørsboe, E., Santander, C. G., Andersen, M. K., Li, Z., Gilly, A., Stinson, S. E., Gjesing, A. P., Bjerregaard, P., Pedersen, M. L., Larsen, C. V. L., Grarup, N., Jørgensen, M. E., Zeggini, E., Bjørkhaug, L., Njølstad, P. R., Albrechtsen, A., Moltke, I., & Hansen, T. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. The Lancet Regional Health - Europe, 24:100529..  , 2023
 
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