COL4A5 c.278G>C ;(p.G93A)

Variant ID: X-107811860-G-C

NM_033380.2(COL4A5):c.278G>C;(p.G93A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Impact of the Amyotrophic Lateral Sclerosis Disease on the Biomechanical Properties and Oxidative Stress Metabolism of the Lung Tissue Correlated With the Human Mutant SOD1G93A Protein Accumulation.

Frontiers In Bioengineering And Biotechnology
Aydemir, Duygu D; Malik, Anjum Naeem AN; Kulac, Ibrahim I; Basak, Ayse Nazli AN; Lazoglu, Ismail I; Ulusu, Nuriye Nuray NN
Publication Date: 2022

Variant appearance in text: ATS: G93A
PubMed Link: 35284425
Variant Present in the following documents:
  • fbioe-10-810243.pdf
View BVdb publication page



Three Pillars of Automated Home-Cage Phenotyping of Mice: Novel Findings, Refinement, and Reproducibility Based on Literature and Experience.

Frontiers In Behavioral Neuroscience
Voikar, Vootele V; Gaburro, Stefano S
Publication Date: 2020

Variant appearance in text: ATS: G93A
PubMed Link: 33192366
Variant Present in the following documents:
  • fnbeh-14-575434.pdf
View BVdb publication page



A Non-invasive Digital Biomarker for the Detection of Rest Disturbances in the SOD1G93A Mouse Model of ALS.

Frontiers In Neuroscience
Golini, Elisabetta E; Rigamonti, Mara M; Iannello, Fabio F; De Rosa, Carla C; Scavizzi, Ferdinando F; Raspa, Marcello M; Mandillo, Silvia S
Publication Date: 2020

Variant appearance in text: ATS: G93A
PubMed Link: 32982678
Variant Present in the following documents:
  • Main text
  • fnins-14-00896.pdf
View BVdb publication page



α-Synuclein Induces Progressive Changes in Brain Microstructure and Sensory-Evoked Brain Function That Precedes Locomotor Decline.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Chu, Winston T WT; DeSimone, Jesse C JC; Riffe, Cara J CJ; Liu, Han H; Chakrabarty, Paramita P; Giasson, Benoit I BI; Vedam-Mai, Vinata V; Vaillancourt, David E DE
Publication Date: 2020-08-19

Variant appearance in text: ATS: G93A
PubMed Link: 32669353
Variant Present in the following documents:
  • zns6649.pdf
View BVdb publication page