Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1086W
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FBN1

NM_000138.5:p.C1086W

Associated Papers

Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.

Smallridge RS et al.

The Journal of Biological Chemistry, 2003

Marfan Database (third edition): new mutations and new routines for the software.

Collod-Béroud G et al.

Nucleic Acids Research, 1998

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.

Collod-Béroud G et al.

Nucleic Acids Research, 1997

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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."