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ABCA4 c.967del ;(p.L323Cfs*51)
Variant ID: 1-94546165-AG-A
NM_000350.2(
ABCA4
):c.967del;(p.L323Cfs*51)
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:
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Investigative Ophthalmology & Visual Science
Fars, Julien J; Pasutto, Francesca F; Kremers, Jan J; Huchzermeyer, Cord C
Publication Date: 2021-11-01
Variant appearance in text: STGD1: 967delC
PubMed Link:
34807235
Variant Present in the following documents:
Main text
iovs-62-14-24.pdf
View BVdb publication page