Publications:

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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: PRNP: S97N

PubMed Link: 36614069

Variant Present in the following documents:

• Main text
• ijms-24-00625.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PRNP: 290G>A; Ser97Asn; rs56362942

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Gene panel for Mendelian strokes.

Stroke And Vascular Neurology

Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y

Publication Date: 2020-12

Variant appearance in text: PRNP: 290G>A; S97N

PubMed Link: 32341005

Variant Present in the following documents:

• svn-2020-000352supp003.pdf

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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Journal Of Movement Disorders

Appel-Cresswell, Silke S; Guella, Ilaria I; Lehman, Anna A; Foti, Dean D; Farrer, Matthew J MJ

Publication Date: 2018-01

Variant appearance in text: PRNP: 290G>A

PubMed Link: 29316780

Variant Present in the following documents:

• Main text
• jmd-17066.pdf

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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: S97N

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Genotype patterns and characteristics of PRNP in the Korean population.

Prion

Moe Lee, Sol S; Ran Ju, Young Y; Choi, Bo-Yeong BY; Wook Hyeon, Jae J; Sun Park, Jun J; Kyeong Kim, Chi C; Yeon Kim, Su S

Publication Date: 2012

Variant appearance in text: rs56362942

PubMed Link: 22561193

Variant Present in the following documents:

• Main text

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