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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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