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

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.

Circulation. Arrhythmia and electrophysiology - 1 Jun 2016

Bersell Kevin, Montgomery Jay A, Kanagasundram Arvindh N, Campbell Courtney M, Chung Wendy K, Macaya Daniela, Konecki David, Venter Eli, Shoemaker M Benjamin, Roden Dan M

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 Electrocardiography
Share to KCNQ1 gene
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to KCNQ1 Potassium Channel

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 27286732
DOI: 10.1161/CIRCEP.116.004081
PMCID: PMC4905601

Genes

KCNQ1

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

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.PMID 27286732Read ↗

A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.Semantic proximity Read ↗

New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.Semantic proximity Read ↗

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndromeSemantic proximity Read ↗

KCNE1 mutations cause Jervell and Lange-Nielsen syndromeSemantic proximity Read ↗

MODY in China: two families carrying the KCNJ11 E229K variant.Semantic proximity Read ↗

De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.Semantic proximity Read ↗

Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

A novel de novo mutation of the Nipped-B-like gene in an isolated Chinese patient with Cornelia de Lange syndrome.Semantic proximity Read ↗

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenitaSemantic proximity Read ↗

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological featuresSemantic proximity Read ↗

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.Semantic proximity Read ↗

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndromeSemantic proximity Read ↗

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