HR c.898_899delinsTA ;(p.G300*)

Variant ID: 8-21985056-CC-TA

NM_005144.4(HR):c.898_899delinsTA;(p.G300*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Design, Manufacturing and Test of CFRP Front Hood Concepts for a Light-Weight Vehicle.

Polymers
Bere, Paul P; Dudescu, Mircea M; Neamțu, Călin C; Cocian, Cătălin C
Publication Date: 2021-04-22

Variant appearance in text: HR: G300X
PubMed Link: 33922349
Variant Present in the following documents:
  • Main text
View BVdb publication page



C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.

Acta Neuropathologica Communications
Rizzu, Patrizia P; Blauwendraat, Cornelis C; Heetveld, Sasja S; Lynes, Emily M EM; Castillo-Lizardo, Melissa M; Dhingra, Ashutosh A; Pyz, Elwira E; Hobert, Markus M; Synofzik, Matthis M; Simón-Sánchez, Javier J; Francescatto, Margherita M; Heutink, Peter P
Publication Date: 2016-04-14

Variant appearance in text: HR: G300X
PubMed Link: 27079381
Variant Present in the following documents:
  • 40478_2016_Article_306.pdf
View BVdb publication page