Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R2731S
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FBN1

NM_000138.5:p.R2731S

Associated Papers

Carboxy-terminal conversion of profibrillin to fibrillin at a basic site by PACE/furin-like activity required for incorporation in the matrix.

Raghunath M et al.

Journal of Cell Science, 1999

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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."