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