APP c.185G>A ;(p.C62Y)

Variant ID: 21-27484336-C-T

NM_000484.3(APP):c.185G>A;(p.C62Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Frontiers In Aging Neuroscience
Bartoletti-Stella, Anna A; Tarozzi, Martina M; Mengozzi, Giacomo G; Asirelli, Francesca F; Brancaleoni, Laura L; Mometto, Nicola N; Stanzani-Maserati, Michelangelo M; Baiardi, Simone S; Linarello, Simona S; Spallazzi, Marco M; Pantieri, Roberta R; Ferriani, Elisa E; Caffarra, Paolo P; Liguori, Rocco R; Parchi, Piero P; Capellari, Sabina S
Publication Date: 2022

Variant appearance in text: APP: 185G>A
PubMed Link: 36133075
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia.

International Journal Of Environmental Research And Public Health
Klimkowicz-Mrowiec, Aleksandra A; Dziubek, Anna A; Sado, Małgorzata M; Karpiński, Marek M; Gorzkowska, Agnieszka A
Publication Date: 2021-08-12

Variant appearance in text: APP: 185G>A
PubMed Link: 34444269
Variant Present in the following documents:
  • Main text
View BVdb publication page