FBN1 c.475_476delinsGC ;(p.R159A)

Variant ID: 15-48888542-CT-GC

NM_000138.4(FBN1):c.475_476delinsGC;(p.R159A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.

Structure (London, England : 1993)
Yadin, David A DA; Robertson, Ian B IB; McNaught-Davis, Joanne J; Evans, Paul P; Stoddart, David D; Handford, Penny A PA; Jensen, Sacha A SA; Redfield, Christina C
Publication Date: 2013-10-08

Variant appearance in text: FBN1: R159A
PubMed Link: 24035709
Variant Present in the following documents:
  • Main text
  • main.pdf
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