Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCN

21 Nov 2022

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic and Kidney Cyst Diseases
Share to Medical Imaging and Pathology Studies
Share to Renal cell carcinoma treatment

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36410626
DOI: 10.1016/j.jmoldx.2022.10.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Minigene Assay as an Effective Molecular Diagnostic Strategy in Determining the Pathogenicity of Noncanonical Splice-Site Variants in FLCNPMID 36410626Read ↗

Protocol for designing and interpreting minigene assays to validate candidate splice altering variantsSemantic proximity Read ↗

Omicron variant: Current insights and future directionsSemantic proximity Read ↗

Quick and easy: 1-day-protocol for detection of normal alternative splicing events and aberrant spliceogenic transcripts with deep RNA sequencingSemantic proximity Read ↗

A new algorithm for molecular diagnostics in FTLDSemantic proximity Read ↗

The qMini assay identifies an overlooked class of splice variantsSemantic proximity Read ↗

Pan-cancer repository of validated natural and cryptic mRNA splicing mutationsSemantic proximity Read ↗

Clinical utility gene card for: Multi-minicore disease.Semantic proximity Read ↗

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.Semantic proximity Read ↗

How can molecular abnormalities influence our clinical approachSemantic proximity Read ↗

Evaluating Human Mutation Databases for ‘Treatability’ Using Personalized Antisense OligonucleotidesSemantic proximity Read ↗

Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.Semantic proximity Read ↗

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.