Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.S1147fs
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FBN1

NM_000138.5:p.S1147fs

Associated Papers

The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Becerra-Muñoz VM et al.

Orphanet Journal of Rare Diseases, 2018

29357934 (PubMed )
Supplement: 13023_2017_754_MOESM1_ESM.docx

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

Yang H et al.

Scientific Reports, 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."