Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.C795F
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FBN2

NM_001999.4:p.C795F

Associated Papers

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly.

Li AL et al.

Frontiers in Genetics, 2023

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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."