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APP c.298_300delinsTAT ;(p.R100Y)
Variant ID: 21-27462314-CCG-ATA
NM_000484.3(
APP
):c.298_300delinsTAT;(p.R100Y)
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:
Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity.
Plos One
Capsoni, Simona S; Covaceuszach, Sonia S; Marinelli, Sara S; Ceci, Marcello M; Bernardo, Antonietta A; Minghetti, Luisa L; Ugolini, Gabriele G; Pavone, Flaminia F; Cattaneo, Antonino A
Publication Date: 2011-02-28
Variant appearance in text: APP: R100Y
PubMed Link:
21387003
Variant Present in the following documents:
Main text
pone.0017321.pdf
View BVdb publication page