Article

The NF1 pathogenic mutational spectrum and variant interpretation from 134,187 individuals in a population database

2022-04-16

Abstract excerpt

Genetic disorders are historically defined through phenotype-first approaches. However, risk estimates derived from phenotype-linked ascertainment may overestimate severity and penetrance. NF1 is a large tumor suppressor gene and related disorders are characterized by several major features, age of onset, variability of severity and occurrence of complications. Pathogenic variants are associated with increased ris...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b588b0ee-33d0-56d7-9eef-9862783a58b2
DOI: 10.22541/au.165010683.36759914/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The NF1 pathogenic mutational spectrum and variant interpretation from 134,187 individuals in a population databaseDOI 10.22541/au.165010683.36759914/v1Read

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

A genotype-first approach identifies high incidence of<i>NF1</i>pathogenic variants with distinct disease associationsSemantic proximity Read

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.Semantic proximity Read

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

Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.Semantic proximity Read

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Semantic proximity Read

RENOVO-NF1 accurately predicts NF1 missense variant pathogenicitySemantic proximity Read

Tumor and Constitutional Sequencing for Neurofibromatosis Type 1Semantic proximity Read

Clinical Impact of Germline Multigene Sequencing in Pediatric Cohorts with a Wide Spectrum of Neoplasms.Semantic proximity Read

Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing.Semantic proximity Read

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.Semantic proximity Read