FBN1 c.399del ;(p.C134Vfs*8)

Variant ID: 15-48892379-AG-A

NM_000138.4(FBN1):c.399del;(p.C134Vfs*8)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Updated genetic studies of Marfan syndrome in China.

Intractable & Rare Diseases Research
Sun, Yuxin Y; Zhou, Di D; Wang, Shouhua S; Ding, Jun J; Ma, Fei F
Publication Date: 2021-11

Variant appearance in text: FBN1: 399delC
PubMed Link: 34877242
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome.

Global Medical Genetics
Yalcintepe, Sinem S; Demir, Selma S; Atli, Emine Ikbal EI; Deveci, Murat M; Atli, Engin E; Gurkan, Hakan H
Publication Date: 2020-08

Variant appearance in text: FBN1: 399delC
PubMed Link: 32939518
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0040-1714092.pdf
View BVdb publication page