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Literature record

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.

PMID 39584075 | PMCID PMC11582537 | DOI 10.1016/j.gendis.2024.101280 · Genes & diseases · 2025

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Validated evidence

TypeEntitySource evidenceConfidenceExtractor
phenotypenephrotic syndrome“Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.”0.98phenotype_alias_lexicon_v2
populationPopulation“Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.”0.80saudi_context_rules_v1