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Intron Splice Region Mutation

Known as: Intronic Splice Region Mutation, Splice Region Mutation 
Any intronic mutation that occurs at a distance up to 10 bases from the exon junction.
National Institutes of Health

Papers overview

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2019
2019
Multi-omics study in monozygotic twins confirm the contribution of de novo mutation to psoriasis.
BACKGROUND Genome-wide association studies have identified over 120 risk loci for psoriasis. However, most of the variations are… Expand
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2016
2016
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome
BackgroundMany COL4A5 splice region variants have been described in patients with X-linked Alport syndrome, but few have been… Expand
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