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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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