Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family. [electronic resource]
- Molecular genetics and genomics : MGG Jan 2020
- 135-142 p. digital
Publication Type: Journal Article
1617-4623
10.1007/s00438-019-01609-0 doi
Adult Exome--genetics Female Genetic Variation--genetics Heterozygote Homozygote Humans Kidney--pathology Male Nephrotic Syndrome--genetics Pedigree Phenotype Exome Sequencing--methods Young Adult