Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C119*
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FBN1

NM_000138.5:p.C119*

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

Epidemiology of hereditary ocular disorders.

Rosenberg T

Developments in Ophthalmology, 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."