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PSEN1 c.193C>T ;(p.Q65*)
Variant ID: 14-73637610-C-T
NM_000021.3(
PSEN1
):c.193C>T;(p.Q65*)
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:
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Genes
Leduc-Pessah, Heather H; White-Brown, Alexandre A; Hartley, Taila T; Pohl, Daniela D; Dyment, David A DA
Publication Date: 2022-05-13
Variant appearance in text: PS1: 193C>T
PubMed Link:
35627257
Variant Present in the following documents:
Main text
genes-13-00872.pdf
View BVdb publication page