Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R2589G
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FBN1

NM_000138.5:p.R2589G

Associated Papers

Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations.

Gao L et al.

International Journal of Cardiology, 2019

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Guo J et al.

Scientific Reports, 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."