FBN1 c.1165_1166del ;(p.C389Lfs*62)

Variant ID: 15-48808540-GCA-G

NM_000138.4(FBN1):c.1165_1166del;(p.C389Lfs*62)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021

Variant appearance in text: FBN1: 1165_1166delTG; Cys389LeufsX62
PubMed Link: 34150014
Variant Present in the following documents:
  • Main text
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