Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.
Fatemeh KhadangiAdam TorkamanzehiMohammad Amin KerachianPublished in: BMC nephrology (2020)
In the present study, we have shown the occurrence of nine novel missense or synonymous variants in PKD1 gene. These data could contribute to an improved diagnostic and genetic counseling in clinical settings.
Keyphrases
- polycystic kidney disease
- copy number
- end stage renal disease
- genome wide
- ejection fraction
- intellectual disability
- newly diagnosed
- chronic kidney disease
- risk assessment
- prognostic factors
- dna methylation
- electronic health record
- machine learning
- patient reported outcomes
- smoking cessation
- big data
- hiv testing
- deep learning
- men who have sex with men
- patient reported
- genome wide identification