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

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.

Journal of electrocardiology - 1 Jan 2000

Lin Yubi, He Siqi, Liao Zili, Feng Ruiling, Liu Ruilin, Peng Yongzheng, Yu Nan, Qi Hang, Chen Jia, Huang Zifeng, Lei Heping, Liu Yang, Rao Fang, Deng Chunyu, Xue Yumei, Zhang Guolin, Zhang Bin, Yao Hua, Wu Shulin

Abstract excerpt

OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Death, Sudden, Cardiac

Share to Exercise Test

Share to Exome Sequencing

Share to Pedigree

Share to Ryanodine Receptor Calcium Release Channel

Share to Syncope

Source

Identifiers

PMID: 29132927
DOI: 10.1016/j.jelectrocard.2017.10.002

Genes

RYR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.PMID 29132927Read ↗

Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.Semantic proximity Read ↗

Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.Semantic proximity Read ↗

An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations.Semantic proximity Read ↗

Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.Semantic proximity Read ↗

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.Semantic proximity Read ↗

Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac DeathSemantic proximity Read ↗

Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.Semantic proximity Read ↗

Study on Gene Mutations of Hereditary Heart Diseases in Cases of Yunnan Sudden Unexplained DeathSemantic proximity Read ↗

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.Semantic proximity Read ↗

[Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing].Semantic proximity Read ↗

Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population.Semantic proximity Read ↗

Rare RYR2 p.Thr85Ile variant is associated with catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

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