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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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