PICALM c.1786C>G ;(p.P596A)

Variant ID: 11-85687719-G-C

NM_007166.3(PICALM):c.1786C>G;(p.P596A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PICALM and Alzheimer's Disease: An Update and Perspectives.

Cells
Ando, Kunie K; Nagaraj, Siranjeevi S; Küçükali, Fahri F; de Fisenne, Marie-Ange MA; Kosa, Andreea-Claudia AC; Doeraene, Emilie E; Lopez Gutierrez, Lidia L; Brion, Jean-Pierre JP; Leroy, Karelle K
Publication Date: 2022-12-10

Variant appearance in text: rs147556602
PubMed Link: 36552756
Variant Present in the following documents:
  • Main text
  • cells-11-03994.pdf
View BVdb publication page



Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Annals Of Neurology
Vardarajan, Badri N BN; Ghani, Mahdi M; Kahn, Amanda A; Sheikh, Stephanie S; Sato, Christine C; Barral, Sandra S; Lee, Joseph H JH; Cheng, Rong R; Reitz, Christiane C; Lantigua, Rafael R; Reyes-Dumeyer, Dolly D; Medrano, Martin M; Jimenez-Velazquez, Ivonne Z IZ; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Mayeux, Richard R
Publication Date: 2015-09

Variant appearance in text: rs147556602
PubMed Link: 26101835
Variant Present in the following documents:
  • Main text
  • ANA-78-487.pdf
View BVdb publication page