PSEN1 c.491C>G ;(p.A164G)

Variant ID: 14-73653571-C-G

NM_000021.3(PSEN1):c.491C>G;(p.A164G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.

Journal Of Cellular And Molecular Medicine
Fang, Xuqian X; Zhang, Yuwen Y; Cai, Jialin J; Lu, Tingwei T; Hu, Junjie J; Yuan, Fei F; Chen, Peizhan P
Publication Date: 2020-10

Variant appearance in text: PSEN1: A164G
PubMed Link: 32864857
Variant Present in the following documents:
  • Main text
View BVdb publication page