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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

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing.
Genetic causes of canine mast cell tumours (MCT), except for mutations in the KIT gene detected in some MCTs, are generally… Expand
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
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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