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ABCA4 c.3017G>A ;(p.G1006D)
Variant ID: 1-94510202-C-T
NM_000350.2(
ABCA4
):c.3017G>A;(p.G1006D)
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:
Novel variants of ABCA4 in Han Chinese families with Stargardt disease.
Bmc Medical Genetics
Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH
Publication Date: 2020-10-31
Variant appearance in text: ABCA4: Gly1006Asp
PubMed Link:
33129279
Variant Present in the following documents:
Main text
12881_2020_1152_MOESM2_ESM.xls, sheet 1
12881_2020_Article_1152.pdf
View BVdb publication page