FBN1 c.7039A>G ;(p.M2347V)

Variant ID: 15-48719929-T-C

NM_000138.4(FBN1):c.7039A>G;(p.M2347V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.

Clinical Genetics
Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM
Publication Date: 2016-06

Variant appearance in text: FBN1: M2347V
PubMed Link: 26621581
Variant Present in the following documents:
  • Main text
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