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.




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