PRNP c.250C>T ;(p.P84S)

Variant ID: 20-4680116-C-T

NM_000311.3(PRNP):c.250C>T;(p.P84S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Movement Disorders in Prionopathies: A Systematic Review.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Rodriguez-Porcel, Federico F; Ciarlariello, Vinícius Boaratti VB; Dwivedi, Alok K AK; Lovera, Lilia L; Da Prat, Gustavo G; Lopez-Castellanos, Ricardo R; Suri, Ritika R; Laub, Holly H; Walker, Ruth H RH; Barsottini, Orlando O; Pedroso, José Luiz JL; Espay, Alberto J AJ
Publication Date: 2019

Variant appearance in text: PRNP: P84S
PubMed Link: 31871824
Variant Present in the following documents:
  • Main text
  • tre-09-712.pdf
View BVdb publication page



Analysis of 12 Chinese Patients with Proline-to-Leucine Mutation at Codon 102-Associated Gerstmann-Sträussler-Scheinker Disease.

Journal Of Clinical Neurology (Seoul, Korea)
Wang, Jing J; Xiao, Kang K; Zhou, Wei W; Shi, Qi Q; Dong, Xiao Ping XP
Publication Date: 2019-04

Variant appearance in text: PRNP: P84S
PubMed Link: 30877692
Variant Present in the following documents:
  • Main text
  • jcn-15-184.pdf
View BVdb publication page



Differential overexpression of SERPINA3 in human prion diseases.

Scientific Reports
Vanni, S S; Moda, F F; Zattoni, M M; Bistaffa, E E; De Cecco, E E; Rossi, M M; Giaccone, G G; Tagliavini, F F; Haïk, S S; Deslys, J P JP; Zanusso, G G; Ironside, J W JW; Ferrer, I I; Kovacs, G G GG; Legname, G G
Publication Date: 2017-11-15

Variant appearance in text: CJD: P84S
PubMed Link: 29142239
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_15778.pdf
  • 41598_2017_15778_MOESM1_ESM.pdf
View BVdb publication page



Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Publication Date: 2017-01

Variant appearance in text: PRNP: P84S
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.

Neurology
Jones, Matthew M; Odunsi, Sola S; du Plessis, Daniel D; Vincent, Angela A; Bishop, Matthew M; Head, Mark W MW; Ironside, James W JW; Gow, David D
Publication Date: 2014-06-10

Variant appearance in text: PRNP: P84S
PubMed Link: 24814844
Variant Present in the following documents:
  • Main text
View BVdb publication page