BFP and ABCA4 sequencing

NIAID Data Ecosystem2026-03-14 收录

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https://www.ncbi.nlm.nih.gov/sra/SRP291869

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BFP and ABCA4 sequencing to compare the efficiency of CBE

创建时间：

2023-01-04

BFP and ABCA4 sequencing

BFP and ABCA4 sequencing to compare the efficiency of CBE

NIAID Data Ecosystem20

Human ABCA4 structure in the unbound state

Human ABCA4 structure in the unbound state Descriptor: 2-acetamido-2-deoxy-beta-D-glucopyranose, 2-acetamido-2-deoxy-beta-D-glucopyranose-(1-4)-2-acetamido-2-deoxy-beta-D-glucopyranose, Retinal-specif

Protein Data Bank Japan2024-10-23 更新20

Additional file 4 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

Additional file 4: Table S5. The canonical splice site variants predicted to lead to complete exon skip with reported variants in trans.

DataCite Commons2023-11-19 更新70

Abca4

ENCODES a protein that exhibits 11-cis retinal binding (inferred); ABC-type transporter activity (inferred); all-trans retinal binding (inferred); INVOLVED IN phospholipid transfer to membrane (orthol

rgd.mcw.edu70

Precision Medicine for ABCA4 Disease: Modifier Alleles

Genetic variation affecting the structure and function of the ABCA4 protein gives rise to a broad collection of genetically and clinically heterogeneous diseases, collectively known as ABCA4 disease,

NIAID Data Ecosystem00