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Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study

Pediatric nephrology (Berlin, Germany), Vol. 37, Issue 8, Pages 1811-1836, 2022

PMID: 35006361

Inherited tubulopathies are a heterogeneous group of genetic disorders making whole-exome sequencing (WES) the preferred diagnostic methodology.

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