Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.T212delFs
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FBN1

NM_000138.5:p.T212delFs

Associated Papers

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis.

Attanasio M et al.

European Journal of Medical Genetics, 2013

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.

Attanasio M et al.

Clinical Genetics, 2008

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Collod-Béroud G et al.

Human Mutation, 2003

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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."