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

[Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Shao Xia, Yu Rikao, Ding Yingguo, Ruan Liming

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1). METHODS: Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents. RESULTS: The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurofibromatosis 1

Share to Pedigree

Source

Identifiers

PMID: 34839510
DOI: 10.3760/cma.j.cn511374-20210220-00144

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of genetic variant in a Chinese pedigree affected with neurofibromatosis type I].PMID 34839510Read ↗

[Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I].Semantic proximity Read ↗

[Analysis of NF1 gene variants among thirteen patients with neurofibromatosis type 1].Semantic proximity Read ↗

The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.Semantic proximity Read ↗

[Analysis of genetic variant in a case of sporadic neurofibromatosis type I with alopecia areata and vitiligo].Semantic proximity Read ↗

A Comprehensive Overview of NF1 Mutations in Iranian Patients.Semantic proximity Read ↗

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.Semantic proximity Read ↗

Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.Semantic proximity Read ↗

Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy.Semantic proximity Read ↗

[Analysis of NF1 gene mutations among eleven sporadic patients with neurofibromatosis type 1].Semantic proximity Read ↗

A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.Semantic proximity Read ↗

[Detection of a BRCA1 c.2013_2014ins GT variant an ethnic Han Chinese pedigree affected with breast cancer].Semantic proximity Read ↗

[Analysis of NF1 gene mutations in two sporadic patients with neurofibromatosis type 1].Semantic proximity Read ↗

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