FBN1 c.4954T>C ;(p.C1652R)

Variant ID: 15-48756207-A-G

NM_000138.4(FBN1):c.4954T>C;(p.C1652R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: 4954T>C
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
  • ijms-23-00438.pdf
View BVdb publication page



Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.

International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Publication Date: 2021-12-31

Variant appearance in text: FBN1: 4954T>C
PubMed Link: 35008861
Variant Present in the following documents:
  • Main text
  • ijms-23-00438.pdf
View BVdb publication page