PSEN1 c.442_444delinsTGG ;(p.I148W)

Variant ID: 14-73640377-ATC-TGG

NM_000021.3(PSEN1):c.442_444delinsTGG;(p.I148W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

European Journal Of Human Genetics : Ejhg
Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J
Publication Date: 2015-10

Variant appearance in text: PSEN1: I148W
PubMed Link: 25604855
Variant Present in the following documents:
  • Main text
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