ABCA4 c.4841_4843del ;(p.N1614del)

Variant ID: 1-94487200-ATGT-A

NM_000350.2(ABCA4):c.4841_4843del;(p.N1614del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology
Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR
Publication Date: 2021-01

Variant appearance in text: ABCA4: 4841_4843delACA; N1614del
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page