Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C204S
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FBN1

NM_000138.5:p.C204S

Associated Papers

The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.

Robertson IB et al.

Structure (london, England : 1993), 2017

28669633 (PubMed )
Supplement: mmc1.pdf

Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.

Hubmacher D et al.

Biomacromolecules, 2014

Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins.

Jensen SA et al.

Structure (london, England : 1993), 2009

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