PSEN1 c.247_248delinsTG ;(p.I83C)

Variant ID: 14-73637664-AT-TG

NM_000021.3(PSEN1):c.247_248delinsTG;(p.I83C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24

Variant appearance in text: PS1: I83C
PubMed Link: 21106832
Variant Present in the following documents:
  • Main text
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