GC c.376_377delinsTC ;(p.L126S)

Variant ID: 4-72631245-AG-GA

NM_000583.3(GC):c.376_377delinsTC;(p.L126S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Abstracts of the XIX International Congress of Neuropathology, Tokyo, Japan, September 23-27, 2018.

Brain Pathology (Zurich, Switzerland)
Publication Date: 2019-02

Variant appearance in text: GC: L126S
PubMed Link: 30815958
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.

Plos One
Kepp, Kasper P KP
Publication Date: 2015

Variant appearance in text: GC: Leu126Ser
PubMed Link: 25798606
Variant Present in the following documents:
  • pone.0118649.s001.pdf
View BVdb publication page



Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Plos Biology
Wang, Qi Q; Johnson, Joshua L JL; Agar, Nathalie Y R NY; Agar, Jeffrey N JN
Publication Date: 2008-07-29

Variant appearance in text: GC: L126S
PubMed Link: 18666828
Variant Present in the following documents:
  • pbio.0060170.pdf
View BVdb publication page