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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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