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APP c.*18C>T
Variant ID: 21-27253963-G-A
NM_000484.3(
APP
):c.*18C>T
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.
European Journal Of Human Genetics : Ejhg
Nicolas, Gaël G; Wallon, David D; Goupil, Claudia C; Richard, Anne-Claire AC; Pottier, Cyril C; Dorval, Véronique V; Sarov-Rivière, Mariana M; Riant, Florence F; Hervé, Dominique D; Amouyel, Philippe P; Guerchet, Maelenn M; Ndamba-Bandzouzi, Bebene B; Mbelesso, Pascal P; Dartigues, Jean-François JF; Lambert, Jean-Charles JC; Preux, Pierre-Marie PM; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Tournier-Lasserve, Elisabeth E; Hébert, Sébastien S SS; Rovelet-Lecrux, Anne A
Publication Date: 2016-01
Variant appearance in text: rs201729239
PubMed Link:
25828868
Variant Present in the following documents:
Main text
View BVdb publication page