PSEN1 c.1135_1137delinsTGT ;(p.V379C)

Variant ID: 14-73683839-GTA-TGT

NM_000021.3(PSEN1):c.1135_1137delinsTGT;(p.V379C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15

Variant appearance in text: PS1: V379C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
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