FBN1 c.2723G>T ;(p.C908F)

Variant ID: 15-48786406-C-A

NM_000138.4(FBN1):c.2723G>T;(p.C908F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Reports
McInerney-Leo, Aideen M AM; Marshall, Mhairi S MS; Gardiner, Brooke B; Coucke, Paul J PJ; Van Laer, Lut L; Loeys, Bart L BL; Summers, Kim M KM; Symoens, Sofie S; West, Jennifer A JA; West, Malcolm J MJ; Paul Wordsworth, B B; Zankl, Andreas A; Leo, Paul J PJ; Brown, Matthew A MA; Duncan, Emma L EL
Publication Date: 2013

Variant appearance in text: FBN1: 2723G>T
PubMed Link: 24501682
Variant Present in the following documents:
  • Main text
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