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ABCA4 c.216G>A ;(p.G72=)
Variant ID: 1-94577080-C-T
NM_000350.2(
ABCA4
):c.216G>A;(p.G72=)
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:
A Review of Gene, Drug and Cell-Based Therapies for Usher Syndrome.
Frontiers In Cellular Neuroscience
French, Lucy S LS; Mellough, Carla B CB; Chen, Fred K FK; Carvalho, Livia S LS
Publication Date: 2020
Variant appearance in text: ABCA4: 216G>A
PubMed Link:
32733204
Variant Present in the following documents:
Main text
View BVdb publication page