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

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

6 Mar 2019

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observed even within the same family. The definition of genotype-phenotype correlations has been hampered by the complexity...

Read the complete abstract on PubMed

Topics

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

Share to Nerve injury and regeneration
Share to Neurofibromatosis and Schwannoma Cases
Share to Protein Tyrosine Phosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30843352
DOI: 10.1002/mgg3.616

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

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromasPMID 30843352Read ↗

Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]Semantic proximity Read ↗

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudySemantic proximity Read ↗

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.Semantic proximity Read ↗

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1Semantic proximity Read ↗

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?Semantic proximity Read ↗

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.Semantic proximity Read ↗

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsSemantic proximity Read ↗

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1Semantic proximity Read ↗

Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variantsSemantic proximity Read ↗

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Semantic proximity Read ↗

A Case Report of Neurofibromatosis Type 1 Caused by NF1 Gene MutationSemantic proximity Read ↗

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