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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

Fig. 1

Sequencing of CASR locus in Pakistani families with nephrolithiasis identifies a likely pathogenic variant. Flow diagram of CaSR locus sequencing through directed Sanger sequencing and exome sequencing in a cohort of 57 Pakistani families with nephrolithiasis is shown. We identified dominant rare CaSR variants 3 of 57 (5.3%) of families, of which one is likely pathogenic and two are variants of unknown significance (VUS)

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