ABCA4 c.884_886del ;(p.D295_L296delinsV)

Variant ID: 1-94546247-AAGT-A

NM_000350.2(ABCA4):c.884_886del;(p.D295_L296delinsV)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International Journal Of Molecular Sciences
Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W
Publication Date: 2021-02-03

Variant appearance in text: ABCA4: 884_886del
PubMed Link: 33546218
Variant Present in the following documents:
  • ijms-22-01508.pdf
View BVdb publication page