PSEN1 c.250A>T ;(p.M84L)

Variant ID: 14-73637667-A-T

NM_000021.3(PSEN1):c.250A>T;(p.M84L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy
Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM
Publication Date: 2018-07-18

Variant appearance in text: PSEN1: M84L
PubMed Link: 30021643
Variant Present in the following documents:
  • Main text
  • 13195_2018_Article_392.pdf
View BVdb publication page