PRNP c.323A>T ;(p.N108I)

Variant ID: 20-4680189-A-T

NM_000311.3(PRNP):c.323A>T;(p.N108I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular prion protein: from physiology to pathology.

Viruses
Yusa, Sei-ichi S; Oliveira-Martins, José B JB; Sugita-Konishi, Yoshiko Y; Kikuchi, Yutaka Y
Publication Date: 2012-11-14

Variant appearance in text: CJD: N108I
PubMed Link: 23202518
Variant Present in the following documents:
  • Main text
View BVdb publication page



Signal sequence insufficiency contributes to neurodegeneration caused by transmembrane prion protein.

The Journal Of Cell Biology
Rane, Neena S NS; Chakrabarti, Oishee O; Feigenbaum, Lionel L; Hegde, Ramanujan S RS
Publication Date: 2010-02-22

Variant appearance in text: PRNP: N108I
PubMed Link: 20156965
Variant Present in the following documents:
  • JCB_200911115.pdf
View BVdb publication page