PSEN1 c.1393_1395delinsGAG ;(p.F465E)

Variant ID: 14-73685986-TTT-GAG

NM_000021.3(PSEN1):c.1393_1395delinsGAG;(p.F465E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11

Variant appearance in text: PS1: F465E
PubMed Link: 25673856
Variant Present in the following documents:
  • Main text
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