Publications:

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: Phe177Val

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: 529T>G

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

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A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer's Disease in a Chinese Family.

Frontiers In Genetics

Jiang, Bin B; Bi, Min M; Li, Jun J; Liu, Qi Q; Xiao, Nai-An NA; Fang, Jie J; Shi, Man-Yi MY; Yu, Zi-Wen ZW; Ma, Qi-Lin QL; Tong, Sui-Jun SJ; Zheng, Kun-Mu KM

Publication Date: 2020

Variant appearance in text: PSEN1: 529T>G

PubMed Link: 32754199

Variant Present in the following documents:

• Main text

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: F177V

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

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