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

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

29 Jul 2019

Abstract excerpt

The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associating rare genetic variants, enriched in this isolate population, with quantitative traits and diseases. As an exemplar, the c.1750G > A; p.Gly584Ser variant within the...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Genetic Associations and Epidemiology
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31358886
DOI: 10.1038/s41598-019-47436-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohortPMID 31358886Read ↗

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.Semantic proximity Read ↗

Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of resultsSemantic proximity Read ↗

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and ShetlandSemantic proximity Read ↗

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.Semantic proximity Read ↗

An intronic mutation causes long QT syndrome.Semantic proximity Read ↗

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.Semantic proximity Read ↗

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetranceSemantic proximity Read ↗

Functional characterization of a novel hERG variant in a family with recurrent sudden infant death syndrome: Retracting a genetic diagnosis.Semantic proximity Read ↗

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetranceSemantic proximity Read ↗

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.Semantic proximity Read ↗

Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome.Semantic proximity Read ↗

Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT SyndromeSemantic proximity Read ↗

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