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APP c.122T>C ;(p.L41P)
Variant ID: 21-27484399-A-G
NM_000484.3(
APP
):c.122T>C;(p.L41P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exfoliation Syndrome: A Disease of Autophagy and LOXL1 Proteopathy.
Journal Of Glaucoma
Bernstein, Audrey M AM; Ritch, Robert R; Wolosin, Jose M JM
Publication Date: 2018-07
Variant appearance in text: APP: L41P
PubMed Link:
29547474
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular machines in the synapse: overlapping protein sets control distinct steps in neurosecretion.
Plos Computational Biology
Cornelisse, L Niels LN; Tsivtsivadze, Evgeni E; Meijer, Marieke M; Dijkstra, Tjeerd M H TM; Heskes, Tom T; Verhage, Matthijs M
Publication Date: 2012
Variant appearance in text: APP: L41P
PubMed Link:
22496630
Variant Present in the following documents:
pcbi.1002450.s009.xls, sheet 3
pcbi.1002450.s011.xls, sheet 1
pcbi.1002450.s009.xls, sheet 2
pcbi.1002450.s009.xls, sheet 1
View BVdb publication page