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PSEN1 c.815T>A ;(p.V272D)
Variant ID: 14-73664784-T-A
NM_000021.3(
PSEN1
):c.815T>A;(p.V272D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: V272D
PubMed Link:
36142879
Variant Present in the following documents:
ijms-23-10970.pdf
View BVdb publication page
Oxidative Stress and Changes of Important Metabolic Gene Expressions as a Potential Biomarker in the Diagnosis of Atherosclerosis in Leukocytes.
Brazilian Journal Of Cardiovascular Surgery
Işık, Mesut M; Tunç, Abdullah A; Beydemir, Şükrü Ş
Publication Date: 2022-08-16
Variant appearance in text: PSEN1: V272D
PubMed Link:
35976206
Variant Present in the following documents:
rbccv-37-04-0481.pdf
View BVdb publication page
Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.
Current Alzheimer Research
Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J
Publication Date: 2021
Variant appearance in text: PSEN1: V272D
PubMed Link:
34102969
Variant Present in the following documents:
CAR-18-265.pdf
View BVdb publication page