FBN1 c.475_476delinsCA ;(p.R159Q)

Variant ID: 15-48888542-CT-TG

NM_000138.4(FBN1):c.475_476delinsCA;(p.R159Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: FBN1: R159Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page