Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.H1144_S1147delFs
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FBN1

NM_000138.5:p.H1144_S1147delFs

Associated Papers

Augmentation index and the evolution of aortic disease in marfan-like syndromes.

Mortensen K et al.

American Journal of Hypertension, 2010

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.

Rybczynski M et al.

American Journal of Medical Genetics. Part A, 2008

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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."