Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.V2606insFs
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FBN1

NM_000138.5:p.V2606insFs

Associated Papers

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.

Halliday DJ et al.

Journal of Medical Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."