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.




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