Bibliome.ai browser hg19
Search
About
Stats
FAQ
ABCA4 c.6479+3A>C
Variant ID: 1-94466389-T-G
NM_000350.2(
ABCA4
):c.6479+3A>C
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:
Choroidal Caverns in Stargardt Disease.
Investigative Ophthalmology & Visual Science
Mucciolo, Dario Pasquale DP; Giorgio, Dario D; Lippera, Myrta M; Dattilo, Valeria V; Passerini, Ilaria I; Pelo, Elisabetta E; Sodi, Andrea A; Virgili, Gianni G; Giansanti, Fabrizio F; Murro, Vittoria V
Publication Date: 2022-02-01
Variant appearance in text: ABCA4: 6479+3A>C
PubMed Link:
35156991
Variant Present in the following documents:
Main text
iovs-63-2-25.pdf
View BVdb publication page