ABCA4midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
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Title
ABCA4midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Authors
Keywords
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Journal
GENOME RESEARCH
Volume 28, Issue 1, Pages 100-110
Publisher
Cold Spring Harbor Laboratory
Online
2017-11-22
DOI
10.1101/gr.226621.117
References
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Note: Only part of the references are listed.- In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases
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- (2016) Monkol Lek et al. NATURE
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- (2016) Riccardo Sangermano et al. OPHTHALMOLOGY
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- (2016) Daniel Murphy et al. PLoS Genetics
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- (2016) Radulfus WN Slijkerman et al. Molecular Therapy-Nucleic Acids
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- (2015) Alexander B. Rosenberg et al. CELL
- Functional Classification ofBRCA2DNA Variants by Splicing Assays in a Large Minigene with 9 Exons
- (2015) Alberto Acedo et al. HUMAN MUTATION
- Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
- (2013) Terry A. Braun et al. HUMAN MOLECULAR GENETICS
- Differential Phospholipid Substrates and Directional Transport by ATP-binding Cassette Proteins ABCA1, ABCA7, and ABCA4 and Disease-causing Mutants
- (2013) Faraz Quazi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
- (2013) Xavier Gerard et al. Molecular Therapy-Nucleic Acids
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- (2012) Caroline A Schneider et al. NATURE METHODS
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- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
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