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ABCA4 c.4880del ;(p.L1627Rfs*35)
Variant ID: 1-94486934-CA-C
NM_000350.2(
ABCA4
):c.4880del;(p.L1627Rfs*35)
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:
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Frontiers In Cell And Developmental Biology
García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM
Publication Date: 2021
Variant appearance in text: ABCA4: 4880del
PubMed Link:
34327195
Variant Present in the following documents:
Main text
View BVdb publication page