Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: PRNP: E219K

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: PRNP: E219K; rs1800014

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease.

Heliyon

Kai, Hideaki H; Teruya, Kenta K; Takeuchi, Atsuko A; Nakamura, Yoshikazu Y; Mizusawa, Hidehiro H; Yamada, Masahito M; Kitamoto, Tetsuyuki T

Publication Date: 2023-03

Variant appearance in text: CJD: E219K

PubMed Link: 36915552

Variant Present in the following documents:

• Main text
• main.pdf

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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: CJD: E219K

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: PRNP: E219K; rs1800014

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 13

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Recognition Mechanisms between a Nanobody and Disordered Epitopes of the Human Prion Protein: An Integrative Molecular Dynamics Study.

Journal Of Chemical Information And Modeling

Mollica, Luca L; Giachin, Gabriele G

Publication Date: 2022-12-29

Variant appearance in text: CJD: E219K

PubMed Link: 36580661

Variant Present in the following documents:

• Main text
• ci2c01062.pdf

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No association of prion protein gene (PRNP) polymorphisms with susceptibility to the pandemic 2009 swine flu.

Molecular & Cellular Toxicology

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2022-11-12

Variant appearance in text: PRNP: E219K

PubMed Link: 36408482

Variant Present in the following documents:

• Main text
• 13273_2022_Article_318.pdf

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Structural and dynamical determinants of a β-sheet-enriched intermediate involved in amyloid fibrillar assembly of human prion protein.

Chemical Science

Russo, Luigi L; Salzano, Giulia G; Corvino, Andrea A; Bistaffa, Edoardo E; Moda, Fabio F; Celauro, Luigi L; D'Abrosca, Gianluca G; Isernia, Carla C; Milardi, Danilo D; Giachin, Gabriele G; Malgieri, Gaetano G; Legname, Giuseppe G; Fattorusso, Roberto R

Publication Date: 2022-09-14

Variant appearance in text: PRNP: E219K

PubMed Link: 36277622

Variant Present in the following documents:

• Main text
• SC-013-D2SC00345G.pdf

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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: E219K

PubMed Link: 35888666

Variant Present in the following documents:

• Main text
• medicina-58-00947.pdf

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Prion protein gene mutation detection using long-read Nanopore sequencing.

Scientific Reports

Kroll, François F; Dimitriadis, Athanasios A; Campbell, Tracy T; Darwent, Lee L; Collinge, John J; Mead, Simon S; Vire, Emmanuelle E

Publication Date: 2022-05-18

Variant appearance in text: CJD: E219K

PubMed Link: 35585119

Variant Present in the following documents:

• Main text

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Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.

Rsc Advances

Jani, Vinod V; Sonavane, Uddhavesh U; Joshi, Rajendra R

Publication Date: 2019-05-07

Variant appearance in text: CJD: E219K

PubMed Link: 35519320

Variant Present in the following documents:

• Main text
• RA-009-C9RA01507H.pdf

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Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.

Frontiers In Aging Neuroscience

Chen, Zhongyun Z; Ma, Jinghong J; Liu, Li L; Liu, Shuying S; Zhang, Jing J; Chu, Min M; Wang, Zhen Z; Chan, Piu P; Wu, Liyong L

Publication Date: 2022

Variant appearance in text: PRNP: E219K

PubMed Link: 35493933

Variant Present in the following documents:

• fnagi-14-830602.pdf

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Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis.

Frontiers In Veterinary Science

Roh, In-Soon IS; Kim, Yong-Chan YC; Won, Sae-Young SY; Park, Kyung-Je KJ; Park, Hoo-Chang HC; Hwang, Ji-Yong JY; Kang, Hae-Eun HE; Sohn, Hyun-Joo HJ; Jeong, Byung-Hoon BH

Publication Date: 2021

Variant appearance in text: CJD: E219K

PubMed Link: 35097050

Variant Present in the following documents:

• Main text
• fvets-08-804325.pdf

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The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease.

Cells

Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2021-11-11

Variant appearance in text: CJD: E219K

PubMed Link: 34831353

Variant Present in the following documents:

• Main text
• cells-10-03132.pdf

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Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Bmj Open

Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Hu, Chao C; Gao, Chen C; Dong, Xiao-Ping XP

Publication Date: 2021-11-15

Variant appearance in text: PRNP: E219K

PubMed Link: 34782343

Variant Present in the following documents:

• Main text

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Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.

Scientific Reports

Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M

Publication Date: 2021-11-04

Variant appearance in text: CJD: E219K

PubMed Link: 34737343

Variant Present in the following documents:

• 41598_2021_Article_495.pdf

View BVdb publication page

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Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.

Scientific Reports

Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M

Publication Date: 2021-11-04

Variant appearance in text: CJD: E219K

PubMed Link: 34737343

Variant Present in the following documents:

• 41598_2021_Article_495.pdf

View BVdb publication page

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PART and ARTAG tauopathies at a relatively young age as a concomitant finding in sporadic Creutzfeldt-Jakob disease.

Prion

Menšíková, Kateřina K; Matěj, Radoslav R; Parobková, Eva E; Smětáková, Magdalena M; Kaňovský, Petr P

Publication Date: 2021-12

Variant appearance in text: rs1800014

PubMed Link: 34224311

Variant Present in the following documents:

• Main text
• KPRN_15_1946378.pdf

View BVdb publication page

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Diagnostic and prognostic performance of CSF α-synuclein in prion disease in the context of rapidly progressive dementia.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Mastrangelo, Andrea A; Baiardi, Simone S; Zenesini, Corrado C; Poleggi, Anna A; Mammana, Angela A; Polischi, Barbara B; Ladogana, Anna A; Capellari, Sabina S; Parchi, Piero P

Publication Date: 2021

Variant appearance in text: CJD: E219K

PubMed Link: 34222611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Involvement of N- and C-terminal region of recombinant cervid prion protein in its reactivity to CWD and atypical BSE prions in real-time quaking-induced conversion reaction in the presence of high concentrations of tissue homogenates.

Prion

Suzuki, Akio A; Sawada, Kazuhei K; Yamasaki, Takeshi T; Denkers, Nathaniel D ND; Mathiason, Candace K CK; Hoover, Edward A EA; Horiuchi, Motohiro M

Publication Date: 2020-12

Variant appearance in text: CJD: E219K

PubMed Link: 33345717

Variant Present in the following documents:

• KPRN_14_1858694.pdf

View BVdb publication page

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Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.

Clinical Epidemiology

Sun, Yu Y; Liu, Chih-Ching CC; Fan, Ling-Yun LY; Huang, Chung-Te CT; Chen, Ta-Fu TF; Lu, Chien-Jung CJ; Guo, Wan-Yuo WY; Chang, Yang-Chyuan YC; Chiu, Ming-Jang MJ

Publication Date: 2020

Variant appearance in text: PRNP: E219K

PubMed Link: 33116901

Variant Present in the following documents:

• Main text
• clep-12-1073.pdf

View BVdb publication page

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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: E219K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.

Prion

Huang, Yumeng Y; Jianfang, Ma M; Morales, Rodrigo R; Tang, Huidong H

Publication Date: 2020-12

Variant appearance in text: CJD: E219K

PubMed Link: 32946318

Variant Present in the following documents:

• Main text
• KPRN_14_1812367.pdf

View BVdb publication page

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Structural effects of the highly protective V127 polymorphism on human prion protein.

Communications Biology

Hosszu, Laszlo L P LLP; Conners, Rebecca R; Sangar, Daljit D; Batchelor, Mark M; Sawyer, Elizabeth B EB; Fisher, Stuart S; Cliff, Matthew J MJ; Hounslow, Andrea M AM; McAuley, Katherine K; Leo Brady, R R; Jackson, Graham S GS; Bieschke, Jan J; Waltho, Jonathan P JP; Collinge, John J

Publication Date: 2020-07-29

Variant appearance in text: PRNP: E219K

PubMed Link: 32728168

Variant Present in the following documents:

• 42003_2020_1126_MOESM5_ESM.pdf

View BVdb publication page

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Genetic Markers for Later Remission in Response to Early Improvement of Antidepressants.

International Journal Of Molecular Sciences

Kang, Hee-Ju HJ; Kim, Ki-Tae KT; Yoo, Kyung-Hun KH; Park, Yoomi Y; Kim, Ju-Wan JW; Kim, Sung-Wan SW; Shin, Il-Seon IS; Kim, Ju Han JH; Kim, Jae-Min JM

Publication Date: 2020-07-10

Variant appearance in text: rs1800014

PubMed Link: 32664413

Variant Present in the following documents:

• Main text
• ijms-21-04884.pdf
• ijms-21-04884-s001.pdf

View BVdb publication page

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Autoantibodies against the prion protein in individuals with PRNP mutations.

Neurology

Frontzek, Karl K; Carta, Manfredi M; Losa, Marco M; Epskamp, Mirka M; Meisl, Georg G; Anane, Alice A; Brandel, Jean-Philippe JP; Camenisch, Ulrike U; Castilla, Joaquín J; Haïk, Stéphane S; Knowles, Tuomas T; Lindner, Ewald E; Lutterotti, Andreas A; Minikel, Eric Vallabh EV; Roiter, Ignazio I; Safar, Jiri G JG; Sanchez-Valle, Raquel R; Žáková, Dana D; Hornemann, Simone S; Aguzzi, Adriano A; ,

Publication Date: 2020-10-06

Variant appearance in text: PRNP: E219K

PubMed Link: 32098855

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E219K

PubMed Link: 31795947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats.

Scientific Reports

Kim, Seon-Kwan SK; Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2019-10-25

Variant appearance in text: CJD: E219K

PubMed Link: 31653880

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51621.pdf

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: PRNP: E219K

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: PRNP: Glu219Lys

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

View BVdb publication page

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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: E219K

PubMed Link: 30961668

Variant Present in the following documents:

• Main text
• 40478_2019_Article_706.pdf

View BVdb publication page

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Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Senanarong, Vorapun V; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-03-26

Variant appearance in text: PRNP: E219K

PubMed Link: 30917570

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CJD: E219K

PubMed Link: 30877692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Scientific Reports

Torrent, Joan J; Martin, Davy D; Noinville, Sylvie S; Yin, Yi Y; Doumic, Marie M; Moudjou, Mohammed M; Béringue, Vincent V; Rezaei, Human H

Publication Date: 2019-02-26

Variant appearance in text: PRNP: E219K

PubMed Link: 30808892

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39261.pdf

View BVdb publication page

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: PRNP: E219K; rs1800014

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

View BVdb publication page

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Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Scientific Reports

Zheng, Zhen Z; Zhang, Meilan M; Wang, Yongheng Y; Ma, Rongsheng R; Guo, Chenyun C; Feng, Liubin L; Wu, Jihui J; Yao, Hongwei H; Lin, Donghai D

Publication Date: 2018-09-04

Variant appearance in text: CJD: E219K

PubMed Link: 30181558

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E219K

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: PRNP: 655G>A; E219K; rs1800014

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

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Disulfide-crosslink scanning reveals prion-induced conformational changes and prion strain-specific structures of the pathological prion protein PrPSc.

The Journal Of Biological Chemistry

Taguchi, Yuzuru Y; Lu, Li L; Marrero-Winkens, Cristobal C; Otaki, Hiroki H; Nishida, Noriyuki N; Schatzl, Hermann M HM

Publication Date: 2018-08-17

Variant appearance in text: PRNP: E219K

PubMed Link: 29934306

Variant Present in the following documents:

• zbc12730.pdf

View BVdb publication page

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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: 655G>A; Glu219Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Clinical and laboratory features of 14 young Chinese probable sCJD patients.

Prion

Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Chen C; Wang, Jing J; Zhang, Bao-Yun BY; Wang, Yuan Y; Dong, Xiao-Ping XP

Publication Date: 2017-03-04

Variant appearance in text: PRNP: E219K

PubMed Link: 28278113

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prion disease: experimental models and reality.

Acta Neuropathologica

Brandner, Sebastian S; Jaunmuktane, Zane Z

Publication Date: 2017-02

Variant appearance in text: CJD: E219K

PubMed Link: 28084518

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Genetics of Neurodegenerative Dementias.

Cold Spring Harbor Perspectives In Biology

Hinz, Flora I FI; Geschwind, Daniel H DH

Publication Date: 2017-04-03

Variant appearance in text: PRNP: E219K

PubMed Link: 27940516

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PRNP: E219K

PubMed Link: 27251305

Variant Present in the following documents:

• Main text
• 40249_2016_Article_143.pdf

View BVdb publication page

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Transcriptomic Determinants of Scrapie Prion Propagation in Cultured Ovine Microglia.

Plos One

Muñoz-Gutiérrez, Juan F JF; Pierlé, Sebastián Aguilar SA; Schneider, David A DA; Baszler, Timothy V TV; Stanton, James B JB

Publication Date: 2016

Variant appearance in text: CJD: E219K

PubMed Link: 26807844

Variant Present in the following documents:

• Main text

View BVdb publication page

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