Guaragna, Mara Sanches

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