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PRNP c.589_591delinsCAA ;(p.N197Q)
Variant ID: 20-4680455-AAC-CAA
NM_000311.3(
PRNP
):c.589_591delinsCAA;(p.N197Q)
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:
A novel subtype of sporadic Creutzfeldt-Jakob disease with PRNP codon 129MM genotype and PrP plaques.
Acta Neuropathologica
Bayazid, Rabeah R; Orru', Christina C; Aslam, Rabail R; Cohen, Yvonne Y; Silva-Rohwer, Amelia A; Lee, Seong-Ki SK; Occhipinti, Rossana R; Kong, Qingzhong Q; Shetty, Shashirekha S; Cohen, Mark L ML; Caughey, Byron B; Schonberger, Lawrence B LB; Appleby, Brian S BS; Cali, Ignazio I
Publication Date: 2023-05-08
Variant appearance in text: CJD: N197Q
PubMed Link:
37156880
Variant Present in the following documents:
Main text
401_2023_Article_2581.pdf
View BVdb publication page
Artificial strain of human prions created in vitro.
Nature Communications
Kim, Chae C; Xiao, Xiangzhu X; Chen, Shugui S; Haldiman, Tracy T; Smirnovas, Vitautas V; Kofskey, Diane D; Warren, Miriam M; Surewicz, Krystyna K; Maurer, Nicholas R NR; Kong, Qingzhong Q; Surewicz, Witold W; Safar, Jiri G JG
Publication Date: 2018-06-04
Variant appearance in text: CJD: N197Q
PubMed Link:
29867164
Variant Present in the following documents:
Main text
41467_2018_Article_4584.pdf
View BVdb publication page
Generation of a new infectious recombinant prion: a model to understand Gerstmann-Sträussler-Scheinker syndrome.
Scientific Reports
Elezgarai, Saioa R SR; Fernández-Borges, Natalia N; Eraña, Hasier H; Sevillano, Alejandro M AM; Charco, Jorge M JM; Harrathi, Chafik C; Saá, Paula P; Gil, David D; Kong, Qingzhong Q; Requena, Jesús R JR; Andréoletti, Olivier O; Castilla, Joaquín J
Publication Date: 2017-08-29
Variant appearance in text: PRNP: N197Q
PubMed Link:
28851967
Variant Present in the following documents:
Main text
41598_2017_Article_9489.pdf
View BVdb publication page
Co-existence of distinct prion types enables conformational evolution of human PrPSc by competitive selection.
The Journal Of Biological Chemistry
Haldiman, Tracy T; Kim, Chae C; Cohen, Yvonne Y; Chen, Wei W; Blevins, Janis J; Qing, Liuting L; Cohen, Mark L ML; Langeveld, Jan J; Telling, Glenn C GC; Kong, Qingzhong Q; Safar, Jiri G JG
Publication Date: 2013-10-11
Variant appearance in text: CJD: N197Q
PubMed Link:
23974118
Variant Present in the following documents:
Main text
View BVdb publication page