HR c.2818C>T ;(p.R940*)

Variant ID: 8-21977645-G-A

NM_005144.4(HR):c.2818C>T;(p.R940*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.

Journal Of Dermatological Case Reports
Pedrosa, Ana A; Nogueira, Ana A; Morais, Paulo P; Duarte, Ana Filipa AF; Pardal, Joana J; Mota, Alberto A; Azevedo, Filomena F
Publication Date: 2013-03-30

Variant appearance in text: HR: 2818C>T
PubMed Link: 23580910
Variant Present in the following documents:
  • Main text
View BVdb publication page