The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
Eva TrevissonValeria MorbidoniMonica ForzanCecilia DaolioValentina FuminiRaffaele ParrozzaniMatteo CassinaEdoardo MidenaLeonardo SalviatiMaurizio ClementiPublished in: Molecular genetics & genomic medicine (2019)
Our data support the correlation of the p.Arg1038Gly missense substitution with the cutaneous phenotype without neurofibromas or other complications. This finding may have relevant implications for patients and genetic counseling, but also to get insights into the function of neurofibromin.
Keyphrases
- end stage renal disease
- genome wide
- chronic kidney disease
- ejection fraction
- intellectual disability
- newly diagnosed
- peritoneal dialysis
- copy number
- signaling pathway
- prognostic factors
- oxidative stress
- electronic health record
- gene expression
- dna methylation
- patient reported outcomes
- cell proliferation
- machine learning
- immune response
- data analysis
- toll like receptor
- deep learning
- inflammatory response
- hepatitis c virus
- nuclear factor
- men who have sex with men