Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Rajiv SinhaSubal PradhanSushmita BanerjeeAfsana JahanShakil AkhtarAmitava PahariSumantra RautPrince ParakhSurupa BasuPriyanka SrivastavaSnehamayee NayakS G ThenralV RamprasadEmma AshtonDetlef BockenhauerKausik MandalPublished in: Pediatric nephrology (Berlin, Germany) (2022)
WES is a powerful tool in the diagnosis and management of children with inherited tubulopathies in the Indian population. A higher resolution version of the Graphical abstract is available as Supplementary information.