PSEN1 c.182A>T ;(p.Q61L)

Variant ID: 14-73637599-A-T

NM_000021.3(PSEN1):c.182A>T;(p.Q61L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer's disease.

Acta Neuropathologica Communications
Borin, Mirta M; Saraceno, Claudia C; Catania, Marcella M; Lorenzetto, Erika E; Pontelli, Valeria V; Paterlini, Anna A; Fostinelli, Silvia S; Avesani, Anna A; Di Fede, Giuseppe G; Zanusso, Gianluigi G; Benussi, Luisa L; Binetti, Giuliano G; Zorzan, Simone S; Ghidoni, Roberta R; Buffelli, Mario M; Bolognin, Silvia S
Publication Date: 2018-07-13

Variant appearance in text: PS1: Q61L
PubMed Link: 30005699
Variant Present in the following documents:
  • Main text
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