ABCA4 c.42_48delinsAG ;(p.N14Kfs*38)

Variant ID: 1-94586554-GGTCCAG-CT

NM_000350.2(ABCA4):c.42_48delinsAG;(p.N14Kfs*38)

This variant was identified in 2 publications

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: 42_48delinsAG
PubMed Link: 33505770
Variant Present in the following documents:
  • tvst-10-1-3_s002.pdf
View BVdb publication page



Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science
Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH
Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 42_48delCTGGACCinsAG
PubMed Link: 32298433
Variant Present in the following documents:
  • iovs-61-4-13_s001.pdf
View BVdb publication page