PSEN1 c.325A>T ;(p.K109*)

Variant ID: 14-73637742-A-T

NM_000021.3(PSEN1):c.325A>T;(p.K109*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer'S Research & Therapy
Karch, Celeste M CM; Hernández, Damián D; Wang, Jen-Chyong JC; Marsh, Jacob J; Hewitt, Alex W AW; Hsu, Simon S; Norton, Joanne J; Levitch, Denise D; Donahue, Tamara T; Sigurdson, Wendy W; Ghetti, Bernardino B; Farlow, Martin M; Chhatwal, Jasmeer J; Berman, Sarah S; Cruchaga, Carlos C; Morris, John C JC; Bateman, Randall J RJ; , ; Pébay, Alice A; Goate, Alison M AM
Publication Date: 2018-07-25

Variant appearance in text: PSEN1: K109*
PubMed Link: 30045758
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_400.pdf
View BVdb publication page