Assessment of rare genetic variants to identify candidate modifier genes underlying neurological manifestations in neurofibromatosis 1 patients

Abstract excerpt

<title>Abstract</title> <p>Neurological phenotypes such as intellectual disability occur in almost half of patients with neurofibromatosis 1 (NF1). Current genotype-phenotype studies have failed to reveal the mechanism underlying this clinical variability. Despite the presence of pathogenic variants of NF1, modifier genes likely determine the occurrence and severity of neurological phenotypes. Exome sequencing da...

Topics

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

• Exome
• Exome Sequencing
• Genes, Modifier
• Genome-Wide Association Study
• Genotype
• Neurofibroma
• Neurofibromatosis 1
• Phenotype

Identifiers and source

Literature Corpus work

2ed4f811-55fd-5d39-976c-39db5fe97e47

DOI

10.21203/rs.3.rs-2012218/v1