PSEN1 c.1130-640T>C

Variant ID: 14-73683194-T-C

NM_000021.3(PSEN1):c.1130-640T>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramirez Aguilar, Laura L; Acosta-Uribe, Juliana J; Giraldo, Margarita M MM; Moreno, Sonia S; Baena, Ana A; Alzate, Diana D; Cuastumal, Rosario R; Aguillón, David D; Madrigal, Lucía L; Saldarriaga, Amanda A; Navarro, Alexander A; Garcia, Gloria P GP; Aguirre-Acevedo, Daniel C DC; Geier, Ethan G EG; Cochran, J Nicholas JN; Quiroz, Yakeel T YT; Myers, Richard M RM; Yokoyama, Jennifer S JS; Kosik, Kenneth S KS; Lopera, Francisco F
Publication Date: 2019-05

Variant appearance in text: rs177413
PubMed Link: 30745123
Variant Present in the following documents:
  • Main text
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