Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.L2427I
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FBN2

NM_001999.4:p.L2427I

Associated Papers

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.

Park ES et al.

American Journal of Medical Genetics, 1998

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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."