Associated Papers
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Al-Maraghi A et al.
Bmc Nephrology, 2024
Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.
Fokstuen S et al.
Clinical Genetics, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.
Viering DHHM et al.
Pediatric Nephrology (berlin, Germany), 2021
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