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ABCA4 c.4571A>G ;(p.D1524G)
Variant ID: 1-94490573-T-C
NM_000350.2(
ABCA4
):c.4571A>G;(p.D1524G)
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:
Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.
Translational Vision Science & Technology
Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M
Publication Date: 2019-03
Variant appearance in text: STGD1: 4571A>G
PubMed Link:
30834176
Variant Present in the following documents:
Main text
i2164-2591-8-2-1.pdf
View BVdb publication page