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PSEN1 c.123A>C ;(p.R41S)
Variant ID: 14-73637540-A-C
NM_000021.3(
PSEN1
):c.123A>C;(p.R41S)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08
Variant appearance in text: PSEN1: Arg41Ser
PubMed Link:
37176125
Variant Present in the following documents:
Main text
ijms-24-08417.pdf
View BVdb publication page
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: Arg41Ser
PubMed Link:
36142879
Variant Present in the following documents:
Main text
ijms-23-10970.pdf
View BVdb publication page
Circular RNAs: Emblematic Players of Neurogenesis and Neurodegeneration.
International Journal Of Molecular Sciences
D'Anca, Marianna M; Buccellato, Francesca R FR; Fenoglio, Chiara C; Galimberti, Daniela D
Publication Date: 2022-04-08
Variant appearance in text: PSEN1: Arg41Ser
PubMed Link:
35456950
Variant Present in the following documents:
Main text
ijms-23-04134.pdf
View BVdb publication page
A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.
International Journal Of Molecular Sciences
Shim, Kyu-Hwan KH; Kang, Min-Ju MJ; Bae, Heewon H; Kim, Danyeong D; Park, Jiwon J; An, Seong-Soo A SA; Jeong, Da-Eun DE
Publication Date: 2022-03-09
Variant appearance in text: PS1: Arg41Ser
PubMed Link:
35328387
Variant Present in the following documents:
Main text
ijms-23-02967.pdf
View BVdb publication page
Extended Study of NUS1 Gene Variants in Parkinson's Disease.
Frontiers In Neurology
Yuan, Lamei L; Chen, Xiangyu X; Song, Zhi Z; Le, Weidong W; Zheng, Wen W; Liu, Xin X; Deng, Hao H
Publication Date: 2020
Variant appearance in text: PSEN1: Arg41Ser
PubMed Link:
33193043
Variant Present in the following documents:
View BVdb publication page