PSEN1 c.166_168delinsTGT ;(p.Q56C)

Variant ID: 14-73637583-CAG-TGT

NM_000021.3(PSEN1):c.166_168delinsTGT;(p.Q56C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Presenilins regulate the cellular activity of ryanodine receptors differentially through isotype-specific N-terminal cysteines.

Experimental Neurology
Payne, Andrew J AJ; Gerdes, Bryan C BC; Naumchuk, Yuliya Y; McCalley, Audrey E AE; Kaja, Simon S; Koulen, Peter P
Publication Date: 2013-12

Variant appearance in text: PS1: Q56C
PubMed Link: 24029002
Variant Present in the following documents:
  • Main text
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