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ABCA4 c.3049_3050delinsGC ;(p.H1017A)
Variant ID: 1-94510169-TG-GC
NM_000350.2(
ABCA4
):c.3049_3050delinsGC;(p.H1017A)
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:
Structural basis of substrate recognition and translocation by human ABCA4.
Nature Communications
Xie, Tian T; Zhang, Zike Z; Fang, Qi Q; Du, Bowen B; Gong, Xin X
Publication Date: 2021-06-22
Variant appearance in text: ABCA4: H1017A
PubMed Link:
34158497
Variant Present in the following documents:
Main text
41467_2021_Article_24194.pdf
41467_2021_24194_MOESM1_ESM.pdf
View BVdb publication page