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Article

Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.

Laboratory medicine - 6 Jan 2024

Topak Ali

Abstract excerpt

OBJECTIVE: Clinical diagnosis of hereditary kidney disease can be difficult because of its rarity and severe phenotypic variability. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we report the clinical application and outcome of a next-generation sequencing-based, targeted multi-gene panel test for the genetic diagnosis of patients with hereditary kidney...

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Share to High-Throughput Nucleotide Sequencing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polycystic Kidney, Autosomal Dominant

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Identifiers

PMID: 37078890
DOI: 10.1093/labmed/lmad027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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