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Article

Rare heterozygous variants in paediatric steroid resistant nephrotic syndrome - a population-based analysis of their significance.

Scientific reports - 10 Aug 2024

Platt C J, Bierzynska A, Ding W, Saleem S A, Koziell A, Saleem M A

Abstract excerpt

Genetic testing in nephrotic syndrome may identify heterozygous predicted-pathogenic variants (HPPVs) in autosomal recessive (AR) genes that are known to cause disease in the homozygous or compound heterozygous state. In such cases, it can be difficult to define the variant's true significance and questions remain about whether a second pathogenic variant has been missed during analysis or whether the variant is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39127776
DOI: 10.1038/s41598-024-68837-2
PMCID: PMC11316802

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