Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1166R
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FBN1

NM_000138.5:p.C1166R

Associated Papers

Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Yang H et al.

Scientific Reports, 2016

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

Yang H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

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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."