PRNP c.623G>A ;(p.R208H)

Variant ID: 20-4680489-G-A

NM_000311.3(PRNP):c.623G>A;(p.R208H)

This variant was identified in 56 publications

View GRCh38 version.




Publications:


Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30

Variant appearance in text: PRNP: R208H
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: PRNP: R208H
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characteristics of Different Types of Prion Diseases - China's Surveillance.

China Cdc Weekly
Shi, Qi Q; Chen, Cao C; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Gao, Liping L; Han, Jun J; Wang, Jichun J; Dong, Xiaoping X
Publication Date: 2022-08-19

Variant appearance in text: PRNP: R208H
PubMed Link: 36285115
Variant Present in the following documents:
  • Main text
  • ccdcw-4-33-723.pdf
View BVdb publication page



The First Evaluation of Proteinase K-Resistant Prion Protein (PrPSc) in Korean Appendix Specimens.

Medicina (Kaunas, Lithuania)
Won, Sae-Young SY; Kim, Yong-Chan YC; Lee, Yu-Ni YN; Park, Chan-Gyun CG; Kim, Woo-Young WY; Jeong, Byung-Hoon BH
Publication Date: 2022-07-18

Variant appearance in text: PRNP: R208H
PubMed Link: 35888666
Variant Present in the following documents:
  • Main text
  • medicina-58-00947.pdf
View BVdb publication page



The Future of Seed Amplification Assays and Clinical Trials.

Frontiers In Aging Neuroscience
Coysh, Thomas T; Mead, Simon S
Publication Date: 2022

Variant appearance in text: CJD: R208H
PubMed Link: 35813946
Variant Present in the following documents:
  • Main text
  • fnagi-14-872629.pdf
View BVdb publication page



The PentUnFOLD algorithm as a tool to distinguish the dark and the light sides of the structural instability of proteins.

Amino Acids
Poboinev, Victor Vitoldovich VV; Khrustalev, Vladislav Victorovich VV; Khrustaleva, Tatyana Aleksandrovna TA; Kasko, Tihon Evgenyevich TE; Popkov, Vadim Dmitrievich VD
Publication Date: 2022-08

Variant appearance in text: CJD: R208H
PubMed Link: 35294674
Variant Present in the following documents:
  • Main text
  • 726_2022_Article_3153.pdf
View BVdb publication page



Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases.

Prion
Gandoglia, Ilaria I; Strada, Laura L; Poleggi, Anna A; Castaldi, Antonio A; Del Sette, Massimo M; Di Maria, Emilio E
Publication Date: 2022-12

Variant appearance in text: PRNP: R208H
PubMed Link: 35167423
Variant Present in the following documents:
  • KPRN_16_2035479.pdf
View BVdb publication page



Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic.

Diagnostics (Basel, Switzerland)
Jankovska, Nikol N; Rusina, Robert R; Bruzova, Magdalena M; Parobkova, Eva E; Olejar, Tomas T; Matej, Radoslav R
Publication Date: 2021-10-01

Variant appearance in text: PRNP: R208H
PubMed Link: 34679519
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01821.pdf
View BVdb publication page



Parkinson's Disease: A Prionopathy?

International Journal Of Molecular Sciences
Vascellari, Sarah S; Manzin, Aldo A
Publication Date: 2021-07-27

Variant appearance in text: CJD: R208H
PubMed Link: 34360787
Variant Present in the following documents:
  • Main text
  • ijms-22-08022.pdf
View BVdb publication page



Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Acta Neuropathologica
Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2021-10

Variant appearance in text: PRNP: R208H
PubMed Link: 34324063
Variant Present in the following documents:
  • Main text
  • 401_2021_2350_MOESM1_ESM.pdf
  • 401_2021_Article_2350.pdf
View BVdb publication page



Detection of Prions in Brain Homogenates and CSF Samples Using a Second-Generation RT-QuIC Assay: A Useful Tool for Retrospective Analysis of Archived Samples.

Pathogens (Basel, Switzerland)
Moško, Tibor T; Galušková, Soňa S; Matěj, Radoslav R; Brůžová, Magdalena M; Holada, Karel K
Publication Date: 2021-06-13

Variant appearance in text: CJD: R208H
PubMed Link: 34199205
Variant Present in the following documents:
  • Main text
  • pathogens-10-00750.pdf
View BVdb publication page



The importance of ongoing international surveillance for Creutzfeldt-Jakob disease.

Nature Reviews. Neurology
Watson, Neil N; Brandel, Jean-Philippe JP; Green, Alison A; Hermann, Peter P; Ladogana, Anna A; Lindsay, Terri T; Mackenzie, Janet J; Pocchiari, Maurizio M; Smith, Colin C; Zerr, Inga I; Pal, Suvankar S
Publication Date: 2021-06

Variant appearance in text: PRNP: R208H
PubMed Link: 33972773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Risk Factors of Creutzfeldt-Jakob Disease in the Population of Newborns in Slovakia.

Pathogens (Basel, Switzerland)
Kosorinova, Dana D; Belay, Girma G; Zakova, Dana D; Stelzer, Martin M; Mitrova, Eva E
Publication Date: 2021-04-06

Variant appearance in text: CJD: R208H
PubMed Link: 33917419
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Cellular Prion Protein: A Promising Therapeutic Target for Cancer.

International Journal Of Molecular Sciences
Go, Gyeongyun G; Lee, Sang Hun SH
Publication Date: 2020-12-02

Variant appearance in text: PRNP: R208H
PubMed Link: 33276687
Variant Present in the following documents:
  • Main text
  • ijms-21-09208.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: PRNP: R208H
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PRNP: R208H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17

Variant appearance in text: CJD: R208H
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
  • cells-09-01480.pdf
View BVdb publication page



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: R208H
PubMed Link: 31871824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Bmc Genomics
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2019-12-03

Variant appearance in text: PRNP: R208H
PubMed Link: 31795947
Variant Present in the following documents:
  • Main text
  • 12864_2019_Article_6315.pdf
View BVdb publication page



Shortening heparan sulfate chains prolongs survival and reduces parenchymal plaques in prion disease caused by mobile, ADAM10-cleaved prions.

Acta Neuropathologica
Aguilar-Calvo, Patricia P; Sevillano, Alejandro M AM; Bapat, Jaidev J; Soldau, Katrin K; Sandoval, Daniel R DR; Altmeppen, Hermann C HC; Linsenmeier, Luise L; Pizzo, Donald P DP; Geschwind, Michael D MD; Sanchez, Henry H; Appleby, Brian S BS; Cohen, Mark L ML; Safar, Jiri G JG; Edland, Steven D SD; Glatzel, Markus M; Nilsson, K Peter R KPR; Esko, Jeffrey D JD; Sigurdson, Christina J CJ
Publication Date: 2020-03

Variant appearance in text: CJD: R208H
PubMed Link: 31673874
Variant Present in the following documents:
  • Main text
View BVdb publication page



Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.

Frontiers In Neuroscience
Chen, Cao C; Hu, Chao C; Shi, Qi Q; Zhou, Wei W; Xiao, Kang K; Wang, Yuan Y; Liu, Lian L; Chen, Jia J; Xia, Ying Y; Dong, Xiao-Ping XP
Publication Date: 2019

Variant appearance in text: CJD: R208H
PubMed Link: 31551692
Variant Present in the following documents:
  • Main text
  • fnins-13-00934.pdf
View BVdb publication page



Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences
Bernardi, Livia L; Bruni, Amalia C AC
Publication Date: 2019-07-23

Variant appearance in text: CJD: Arg208His
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
View BVdb publication page



The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.

Acta Neuropathologica Communications
Rossi, Marcello M; Kai, Hideaki H; Baiardi, Simone S; Bartoletti-Stella, Anna A; Carlà, Benedetta B; Zenesini, Corrado C; Capellari, Sabina S; Kitamoto, Tetsuyuki T; Parchi, Piero P
Publication Date: 2019-04-08

Variant appearance in text: CJD: R208H
PubMed Link: 30961668
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_706.pdf
View BVdb publication page



Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Viruses
Rossi, Marcello M; Baiardi, Simone S; Parchi, Piero P
Publication Date: 2019-03-29

Variant appearance in text: CJD: R208H
PubMed Link: 30934971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier.

Acta Neuropathologica Communications
Tiple, Dorina D; Poleggi, Anna A; Mellina, Vittorio V; Morocutti, Antonino A; Brusa, Livia L; Iani, Cesare C; Colaizzo, Elisa E; Vaianella, Luana L; Baiardi, Simone S; Ladogana, Anna A; Parchi, Piero P; Pocchiari, Maurizio M
Publication Date: 2019-03-21

Variant appearance in text: CJD: R208H
PubMed Link: 30898147
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_699.pdf
View BVdb publication page



Infectious Disease Transmission in Solid Organ Transplantation: Donor Evaluation, Recipient Risk, and Outcomes of Transmission.

Transplantation Direct
White, Sarah L SL; Rawlinson, William W; Boan, Peter P; Sheppeard, Vicky V; Wong, Germaine G; Waller, Karen K; Opdam, Helen H; Kaldor, John J; Fink, Michael M; Verran, Deborah D; Webster, Angela A; Wyburn, Kate K; Grayson, Lindsay L; Glanville, Allan A; Cross, Nick N; Irish, Ashley A; Coates, Toby T; Griffin, Anthony A; Snell, Greg G; Alexander, Stephen I SI; Campbell, Scott S; Chadban, Steven S; Macdonald, Peter P; Manley, Paul P; Mehakovic, Eva E; Ramachandran, Vidya V; Mitchell, Alicia A; Ison, Michael M
Publication Date: 2019-01

Variant appearance in text: PRNP: R208H
PubMed Link: 30656214
Variant Present in the following documents:
  • txd-5-e416.pdf
View BVdb publication page



Recent advances in the histo-molecular pathology of human prion disease.

Brain Pathology (Zurich, Switzerland)
Baiardi, Simone S; Rossi, Marcello M; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2019-03

Variant appearance in text: CJD: R208H
PubMed Link: 30588685
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018

Variant appearance in text: PRNP: R208H
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.pdf
View BVdb publication page



High diagnostic value of second generation CSF RT-QuIC across the wide spectrum of CJD prions.

Scientific Reports
Franceschini, Alessia A; Baiardi, Simone S; Hughson, Andrew G AG; McKenzie, Neil N; Moda, Fabio F; Rossi, Marcello M; Capellari, Sabina S; Green, Alison A; Giaccone, Giorgio G; Caughey, Byron B; Parchi, Piero P
Publication Date: 2017-09-06

Variant appearance in text: PRNP: R208H
PubMed Link: 28878311
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_10922.pdf
View BVdb publication page



Genetic PrP Prion Diseases.

Cold Spring Harbor Perspectives In Biology
Kim, Mee-Ohk MO; Takada, Leonel T LT; Wong, Katherine K; Forner, Sven A SA; Geschwind, Michael D MD
Publication Date: 2018-05-01

Variant appearance in text: CJD: R208H
PubMed Link: 28778873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PRNP: 623G>A; Arg208His
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: PRNP: R208H
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Prion-specific and surrogate CSF biomarkers in Creutzfeldt-Jakob disease: diagnostic accuracy in relation to molecular subtypes and analysis of neuropathological correlates of p-tau and Aβ42 levels.

Acta Neuropathologica
Lattanzio, Francesca F; Abu-Rumeileh, Samir S; Franceschini, Alessia A; Kai, Hideaki H; Amore, Giulia G; Poggiolini, Ilaria I; Rossi, Marcello M; Baiardi, Simone S; McGuire, Lynne L; Ladogana, Anna A; Pocchiari, Maurizio M; Green, Alison A; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2017-04

Variant appearance in text: CJD: R208H
PubMed Link: 28205010
Variant Present in the following documents:
  • Main text
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: R208H
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and Aβ42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants.

Journal Of Alzheimer'S Disease : Jad
Abu Rumeileh, Samir S; Lattanzio, Francesca F; Stanzani Maserati, Michelangelo M; Rizzi, Romana R; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2017

Variant appearance in text: CJD: R208H
PubMed Link: 27886009
Variant Present in the following documents:
  • Main text
  • jad-55-jad160740.pdf
View BVdb publication page



Misfolding leads the way to unraveling signaling pathways in the pathophysiology of prion diseases.

Prion
Puig, Berta B; Altmeppen, Hermann C HC; Glatzel, Markus M
Publication Date: 2016-11

Variant appearance in text: PRNP: R208H
PubMed Link: 27870599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epidemiological characteristics of human prion diseases.

Infectious Diseases Of Poverty
Chen, Cao C; Dong, Xiao-Ping XP
Publication Date: 2016-06-02

Variant appearance in text: CJD: R208H
PubMed Link: 27251305
Variant Present in the following documents:
  • Main text
  • 40249_2016_Article_143.pdf
View BVdb publication page



Quantifying prion disease penetrance using large population control cohorts.

Science Translational Medicine
Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG
Publication Date: 2016-01-20

Variant appearance in text: PRNP: R208H
PubMed Link: 26791950
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Plos One
Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Zhang, Xiu-Chun XC; Shen, Xiao-Jing XJ; Li, Qing Q; Deng, Li-Quan LQ; Dong, Jian-Hua JH; Lin, Wen-Qing WQ; Huang, Pu P; Jiang, Wei-Jia WJ; Lv, Jie J; Han, Jun J; Dong, Xiao-Ping XP
Publication Date: 2015

Variant appearance in text: CJD: R208H
PubMed Link: 26488179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prion Disease Induces Alzheimer Disease-Like Neuropathologic Changes.

Journal Of Neuropathology And Experimental Neurology
Tousseyn, Thomas T; Bajsarowicz, Krystyna K; Sánchez, Henry H; Gheyara, Ania A; Oehler, Abby A; Geschwind, Michael M; DeArmond, Bernadette B; DeArmond, Stephen J SJ
Publication Date: 2015-09

Variant appearance in text: CJD: R208H
PubMed Link: 26226132
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PRNP: R208H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Proteinase-activated receptor 2 and disease biomarkers in cerebrospinal fluid in cases with autopsy-confirmed prion diseases and other neurodegenerative diseases.

Bmc Neurology
Rohan, Zdenek Z; Smetakova, Magdalena M; Kukal, Jaromir J; Rusina, Robert R; Matej, Radoslav R
Publication Date: 2015-03-31

Variant appearance in text: CJD: R208H
PubMed Link: 25886404
Variant Present in the following documents:
  • 12883_2015_Article_300.pdf
View BVdb publication page



The structure of human prions: from biology to structural models-considerations and pitfalls.

Viruses
Acevedo-Morantes, Claudia Y CY; Wille, Holger H
Publication Date: 2014-10-20

Variant appearance in text: CJD: R208H
PubMed Link: 25333467
Variant Present in the following documents:
  • Main text
  • viruses-06-03875.pdf
View BVdb publication page