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SNCA c.255del ;(p.S87Afs*67)
Variant ID: 4-90743448-CT-C
NM_000345.3(
SNCA
):c.255del;(p.S87Afs*67)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Patient-Derived Induced Pluripotent Stem Cell-Based Models in Parkinson's Disease for Drug Identification.
International Journal Of Molecular Sciences
Kouroupi, Georgia G; Antoniou, Nasia N; Prodromidou, Kanella K; Taoufik, Era E; Matsas, Rebecca R
Publication Date: 2020-09-26
Variant appearance in text: SNCA: 255delA
PubMed Link:
32993172
Variant Present in the following documents:
Main text
ijms-21-07113.pdf
View BVdb publication page
A compendious summary of Parkinson's disease patient-derived iPSCs in the first decade.
Annals Of Translational Medicine
Ren, Chao C; Wang, Fen F; Guan, Li-Na LN; Cheng, Xiao-Yu XY; Zhang, Cai-Yi CY; Geng, De-Qin DQ; Liu, Chun-Feng CF
Publication Date: 2019-11
Variant appearance in text: SNCA: 255delA
PubMed Link:
31930086
Variant Present in the following documents:
Main text
View BVdb publication page
Parkin truncating variants result in a loss-of-function phenotype.
Scientific Reports
Santos, Mariana M; Morais, Sara S; Pereira, Conceição C; Sequeiros, Jorge J; Alonso, Isabel I
Publication Date: 2019-11-06
Variant appearance in text: SNCA: 255delA
PubMed Link:
31695088
Variant Present in the following documents:
41598_2019_Article_52534.pdf
View BVdb publication page
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
Neurology. Genetics
Morais, Sara S; Bastos-Ferreira, Rita R; Sequeiros, Jorge J; Alonso, Isabel I
Publication Date: 2016-06
Variant appearance in text: SNCA: 255delA
PubMed Link:
27182553
Variant Present in the following documents:
NG2015001636.pdf
View BVdb publication page