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

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.

American journal of medical genetics. Part A - 1 Jun 2023

Bhola Priya T, Marshall Aren E, Liang Yijing, Couse Madeline, Wang Xueqi, Miller Elka, Morel Chantal F, Boycott Kym M, Kernohan Kristin D

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 Base Sequence
Share to Exome Sequencing
Share to Introns
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RNA Splicing

Share to Sequence Analysis, RNA

Source

Identifiers

PMID: 36995918
DOI: 10.1002/ajmg.a.63184

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12-related disorder.PMID 36995918Read ↗

Enhancing Diagnosis Through RNA Sequencing.Semantic proximity Read ↗

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.Semantic proximity Read ↗

Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.Semantic proximity Read ↗

POLR3A-related disorders: expanding the clinical phenotype.Semantic proximity Read ↗

Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.Semantic proximity Read ↗

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.Semantic proximity Read ↗

Rett and ICF syndromes: methylation moves into medicine.Semantic proximity Read ↗

Deep intronic mutations and human disease.Semantic proximity Read ↗

A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.Semantic proximity Read ↗

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

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.Semantic proximity Read ↗

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counselingSemantic proximity Read ↗

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