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APP c.338T>C ;(p.I113T)
Variant ID: 21-27462276-A-G
NM_000484.3(
APP
):c.338T>C;(p.I113T)
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:
Alterations in Tau Metabolism in ALS and ALS-FTSD.
Frontiers In Neurology
Strong, Michael J MJ; Donison, Neil S NS; Volkening, Kathryn K
Publication Date: 2020
Variant appearance in text: APP: I113T
PubMed Link:
33329356
Variant Present in the following documents:
fneur-11-598907.pdf
View BVdb publication page
Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons.
Nature Biomedical Engineering
Tekin, Halil H; Simmons, Sean S; Cummings, Beryl B; Gao, Linyi L; Adiconis, Xian X; Hession, Cynthia C CC; Ghoshal, Ayan A; Dionne, Danielle D; Choudhury, Sourav R SR; Yesilyurt, Volkan V; Sanjana, Neville E NE; Shi, Xi X; Lu, Congyi C; Heidenreich, Matthias M; Pan, Jen Q JQ; Levin, Joshua Z JZ; Zhang, Feng F
Publication Date: 2018-07
Variant appearance in text: APP: I113T
PubMed Link:
30271673
Variant Present in the following documents:
nihms950698.pdf
View BVdb publication page
Current Therapeutic Molecules and Targets in Neurodegenerative Diseases Based on in silico Drug Design.
Current Neuropharmacology
Sehgal, Sheikh Arslan SA; Hammad, Mirza A MA; Tahir, Rana Adnan RA; Akram, Hafiza Nisha HN; Ahmad, Faheem F
Publication Date: 2018
Variant appearance in text: APP: I113T
PubMed Link:
29542412
Variant Present in the following documents:
Main text
CN-16-649.pdf
View BVdb publication page