FBN1 c.1747del ;(p.N584Mfs*41)

Variant ID: 15-48800868-AG-A

NM_000138.4(FBN1):c.1747del;(p.N584Mfs*41)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Quarto, Natalina N; Leonard, Brian B; Li, Shuli S; Marchand, Melanie M; Anderson, Erica E; Behr, Barry B; Francke, Uta U; Reijo-Pera, Renee R; Chiao, Eric E; Longaker, Michael T MT
Publication Date: 2012-01-03

Variant appearance in text: FBN1: 1747delC
PubMed Link: 22178754
Variant Present in the following documents:
  • Main text
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