PRNP c.628G>C ;(p.V210L)

Variant ID: 20-4680494-G-C

NM_000311.3(PRNP):c.628G>C;(p.V210L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases.

Acta Neuropathologica Communications
Reiniger, Lilla L; Mirabile, Ilaria I; Lukic, Ana A; Wadsworth, Jonathan Df JD; Linehan, Jacqueline M JM; Groves, Michael M; Lowe, Jessica J; Druyeh, Ronald R; Rudge, Peter P; Collinge, John J; Mead, Simon S; Brandner, Sebastian S
Publication Date: 2013-05-09

Variant appearance in text: CJD: V210L
PubMed Link: 24252267
Variant Present in the following documents:
  • Main text
  • 40478_2013_Article_18.pdf
View BVdb publication page