PSEN1 c.1049C>T ;(p.P350L)

Variant ID: 14-73678570-C-T

NM_000021.3(PSEN1):c.1049C>T;(p.P350L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Two-pore channels and disease.

Biochimica Et Biophysica Acta. Molecular Cell Research
Patel, Sandip S; Kilpatrick, Bethan S BS
Publication Date: 2018-11

Variant appearance in text: PS1: P350L
PubMed Link: 29746898
Variant Present in the following documents:
  • Main text
View BVdb publication page