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.




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