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Article

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

27 Mar 2014

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Share to Colorectal Cancer Screening and Detection
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 24675673
DOI: 10.1038/gim.2014.30

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Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposisPMID 24675673Read ↗

Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonizationSemantic proximity Read ↗

Detection of APC mosaicism by next-generation sequencing in an FAP patientSemantic proximity Read ↗

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Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.Semantic proximity Read ↗

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APCSemantic proximity Read ↗

Shortcuts to genetic characterization of polyposis patients in a high-risk registrySemantic proximity Read ↗

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing.Semantic proximity Read ↗

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.Semantic proximity Read ↗

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.Semantic proximity Read ↗

Prevalence and consequences of<i>APC</i>mosaicism in patients with colorectal adenomasSemantic proximity Read ↗

Direct analysis for familial adenomatous polyposis mutations.Semantic proximity Read ↗

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Semantic proximity Read ↗

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