PSEN1 c.247_252del ;(p.I83_M84del)

Variant ID: 14-73637661-GTGATCA-G

NM_000021.3(PSEN1):c.247_252del;(p.I83_M84del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)
Chelban, Viorica V; Breza, Marianthi M; Szaruga, Maria M; Vandrovcova, Jana J; Murphy, David D; Lee, Chia-Ju CJ; Alikhwan, Sondos S; Bourinaris, Thomas T; Vavougios, George G; Ilyas, Muhammad M; Halim, Sobia Ahsan SA; Al-Harrasi, Ahmed A; Kartanou, Chrisoula C; Ronald, Coras C; Blumcke, Ingmar I; Alexoudi, Athanasia A; Gatzonis, Stylianos S; Stefanis, Leonidas L; Karadima, Georgia G; Wood, Nicholas W NW; Chávez-Gutiérrez, Lucía L; Hardy, John J; Houlden, Henry H; Koutsis, Georgios G
Publication Date: 2021

Variant appearance in text: PSEN1: Ile83_Met84del
PubMed Link: 33969176
Variant Present in the following documents:
  • Main text
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