Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease

Dorte L. Lildballe*, Sara Markholt, Christina Daugaard Lyngholm, Qin Hao, Christina Fagerberg, Dorte Guldbrand Nielsen, Julius Hannibal Svensmark, Birgitte Rode Diness, Pernille A. Gregersen

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology

Pharmacology, Toxicology and Pharmaceutical Science

Keyphrases

Neuroscience