FDXR c.963del ;(p.R322Gfs*7)

Variant ID: 17-72860308-GC-G

NM_024417.2(FDXR):c.963del;(p.R322Gfs*7)

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:

60th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2023 Kyoto).

Documenta Ophthalmologica. Advances In Ophthalmology
Publication Date: 2023-03-16

Variant appearance in text: FDXR: 963delG
PubMed Link: 36922483
Variant Present in the following documents:
  • 10633_2023_Article_9928.pdf
View BVdb publication page