Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: His214Asn

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: H214N

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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Gene mutations in a Han Chinese Alzheimer's disease cohort.

Brain And Behavior

Ma, Limin L; Zhang, Jiewen J; Shi, Yingying Y; Wang, Wan W; Ren, Zhixia Z; Xia, Mingrong M; Zhang, Yuanxing Y; Yang, Miaomiao M

Publication Date: 2019-01

Variant appearance in text: PSEN1: H214N

PubMed Link: 30549411

Variant Present in the following documents:

• BRB3-9-e01180.pdf

View BVdb publication page

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Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.

Journal Of Alzheimer'S Disease : Jad

Fenoglio, Chiara C; Scarpini, Elio E; Serpente, Maria M; Galimberti, Daniela D

Publication Date: 2018

Variant appearance in text: PSEN1: H214N

PubMed Link: 29562532

Variant Present in the following documents:

• jad-62-jad170702.pdf

View BVdb publication page

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: PSEN1: H214N

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

View BVdb publication page

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CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases.

Oncotarget

Khan, Faheem Ahmed FA; Pandupuspitasari, Nuruliarizki Shinta NS; Chun-Jie, Huang H; Ao, Zhou Z; Jamal, Muhammad M; Zohaib, Ali A; Khan, Farhan Ahmed FA; Hakim, Muthia Raihana MR; ShuJun, Zhang Z

Publication Date: 2016-08-09

Variant appearance in text: PSEN1: H214N

PubMed Link: 27250031

Variant Present in the following documents:

• oncotarget-07-52541.pdf

View BVdb publication page

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