FBN1 c.5810G>A ;(p.G1937E)

Variant ID: 15-48737680-C-T

NM_000138.4(FBN1):c.5810G>A;(p.G1937E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

International Journal Of Molecular Sciences
Van Gucht, Ilse I; Krebsova, Alice A; Diness, Birgitte Rode BR; Laga, Steven S; Adlam, Dave D; Kempers, Marlies M; Samani, Nilesh J NJ; Webb, Tom R TR; Baranowska, Ania A AA; Van Den Heuvel, Lotte L; Perik, Melanie M; Luyckx, Ilse I; Peeters, Nils N; Votypka, Pavel P; Macek, Milan M; Meester, Josephina J; Van Laer, Lut L; Verstraeten, Aline A; Loeys, Bart L BL
Publication Date: 2021-07-01

Variant appearance in text: FBN1: 5810G>A; Gly1937Glu
PubMed Link: 34281165
Variant Present in the following documents:
  • Main text
  • ijms-22-07111.pdf
View BVdb publication page