FBN1 c.4145A>G ;(p.N1382S)

Variant ID: 15-48766517-T-C

NM_000138.4(FBN1):c.4145A>G;(p.N1382S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One
Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA
Publication Date: 2021

Variant appearance in text: FBN1: N1382S
PubMed Link: 33735269
Variant Present in the following documents:
  • Main text
  • pone.0248532.pdf
View BVdb publication page