Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C996G
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FBN1

NM_000138.5:p.C996G

Associated Papers

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Hernándiz A et al.

Clinical Genetics, 2021

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Baudhuin LM et al.

Journal of Human Genetics, 2015

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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."