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

[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the NARS2 gene].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Dec 2024

Wang Y N, Xu H E, Mao L, Fu G S, Xu Y, Seng D J, Han F G, Wang S F

Abstract excerpt

Objective: To investigate the pathogenic variants and function of a pedigree with syndromic hearing loss using high-throughput sequencing. Methods: Detailed medical history and pedigree history were inquired, and a pedigree chart was drawn. Hearing examinations were performed on this pedigree, and whole-exome sequencing and bioinformatics analysis were performed to screen for suspected pathogenic variants. Then,...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to High-Throughput Nucleotide Sequencing

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 39734284
DOI: 10.3760/cma.j.cn115330-20240514-00278

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and pathogenic variant analysis in a pedigree with syndromic hearing loss caused by likely pathogenic variants in the NARS2 gene].PMID 39734284Read ↗

Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.Semantic proximity Read ↗

Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.Semantic proximity Read ↗

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.Semantic proximity Read ↗

The phenotypic variability and natural history of NARS2 associated disease.Semantic proximity Read ↗

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature reviewSemantic proximity Read ↗

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.Semantic proximity Read ↗

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical PracticeSemantic proximity Read ↗

[Application of next generation sequencing in congenital sensorineural deafness].Semantic proximity Read ↗

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.Semantic proximity Read ↗

Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing lossSemantic proximity Read ↗

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.Semantic proximity Read ↗

Whole-exome sequencing and its impact in hereditary hearing loss.Semantic proximity Read ↗

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