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.




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