When a "disease-causing mutation" is not a pathogenic variant.

doi:10.1373/clinchem.2013.215947

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

Community

Back to search

Article

When a "disease-causing mutation" is not a pathogenic variant.

Clinical chemistry - 1 May 2014

Wang Jian, Shen Yiping

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 Mutation
Share to Pedigree
Share to Disease
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 24363373
DOI: 10.1373/clinchem.2013.215947

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

When a "disease-causing mutation" is not a pathogenic variant.PMID 24363373Read ↗

[Mutations and diseases].Semantic proximity Read ↗

Had COVID but no symptoms? You might have this genetic mutation.Semantic proximity Read ↗

[Pathogenic mutation or polymorphism? (How to find criteria)].Semantic proximity Read ↗

Incidental findings in clinical genomics: a clarification.Semantic proximity Read ↗

Lessons in genetics: Common diseases occur in patients with a genetic syndrome.Semantic proximity Read ↗

Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.Semantic proximity Read ↗

Proof of "disease causing" mutation.Semantic proximity Read ↗

[Molecular genetic reports in clinical practice: content and nomenclature of mutations].Semantic proximity Read ↗

Genetics. No longer de-identified.Semantic proximity Read ↗

Molecular diagnosis of genetic diseases.Semantic proximity Read ↗

Finding the Rare Pathogenic Variants in a Human Genome.Semantic proximity Read ↗

Commentary to 'a remark on rare variants'.Semantic proximity Read ↗

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