PSEN1 c.358G>T ;(p.E120*)

Variant ID: 14-73640293-G-T

NM_000021.3(PSEN1):c.358G>T;(p.E120*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes
Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL
Publication Date: 2022-03-18

Variant appearance in text: PS1: 358G>T
PubMed Link: 35328090
Variant Present in the following documents:
  • genes-13-00537.pdf
View BVdb publication page