FBN1 c.7453+713A>C

Variant ID: 15-48716853-T-G

NM_000138.4(FBN1):c.7453+713A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Association of Circulating Cathepsin B Levels With Blood Pressure and Aortic Dilation.

Frontiers In Cardiovascular Medicine
Chai, Tianci T; Tian, Mengyue M; Yang, Xiaojie X; Qiu, Zhihuang Z; Lin, Xinjian X; Chen, Liangwan L
Publication Date: 2022

Variant appearance in text: rs2015637
PubMed Link: 35425820
Variant Present in the following documents:
  • Main text
  • fcvm-09-762468.pdf
View BVdb publication page



Identification of Susceptibility Loci for Spontaneous Coronary Artery Dissection.

Jama Cardiology
Turley, Tamiel N TN; O'Byrne, Megan M MM; Kosel, Matthew L ML; de Andrade, Mariza M; Gulati, Rajiv R; Hayes, Sharonne N SN; Tweet, Marysia S MS; Olson, Timothy M TM
Publication Date: 2020-08-01

Variant appearance in text: rs2015637
PubMed Link: 32374345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics
El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2009-11

Variant appearance in text: rs2015637
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page