Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1117G
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FBN1

NM_000138.5:p.C1117G

Associated Papers

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Yang RQ et al.

Bmc Genetics, 2014

24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

Putnam EA et al.

American Journal of Medical Genetics, 1996

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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."