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Intron Splice Region Mutation
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
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Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing.
Veterinary and comparative oncology
Corpus ID: 210949022
Genetic causes of canine mast cell tumours (MCT), except for mutations in the KIT gene detected in some MCTs, are generally…
Multi-omics study in monozygotic twins confirm the contribution of de novo mutation to psoriasis.
Journal of autoimmunity
Corpus ID: 204814334
BACKGROUND Genome-wide association studies have identified over 120 risk loci for psoriasis. However, most of the variations are…
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
Corpus ID: 23707919
BackgroundMany COL4A5 splice region variants have been described in patients with X-linked Alport syndrome, but few have been…
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