PSEN1 c.544T>G ;(p.L182V)

Variant ID: 14-73653624-T-G

NM_000021.3(PSEN1):c.544T>G;(p.L182V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: L182V
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page