PSEN1 c.403_404delinsTG ;(p.N135C)

Variant ID: 14-73640338-AA-TG

NM_000021.3(PSEN1):c.403_404delinsTG;(p.N135C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Allosteric regulation of γ-secretase activity by a phenylimidazole-type γ-secretase modulator.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeo, Koji K; Tanimura, Shun S; Shinoda, Takehiro T; Osawa, Satoko S; Zahariev, Ivan Krasmirov IK; Takegami, Naoki N; Ishizuka-Katsura, Yoshiko Y; Shinya, Naoko N; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Ohsawa, Noboru N; Kimura-Someya, Tomomi T; Shirouzu, Mikako M; Yokoshima, Satoshi S; Yokoyama, Shigeyuki S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2014-07-22

Variant appearance in text: PS1: N135C
PubMed Link: 25009180
Variant Present in the following documents:
  • Main text
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