Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.

doi:10.1053/j.ajkd.2019.12.008

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Article

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Oct 2020

Riedhammer Korbinian M, Braunisch Matthias C, Günthner Roman, Wagner Matias, Hemmer Clara, Strom Tim M, Schmaderer Christoph, Renders Lutz, Tasic Velibor, Gucev Zoran, Nushi-Stavileci Valbona, Putnik Jovana, Stajić Nataša, Weidenbusch Marc, Uetz Barbara, Montoya Carmen, Strotmann Peter, Ponsel Sabine, Lange-Sperandio Baerbel, Hoefele Julia

Abstract excerpt

RATIONALE & OBJECTIVE: Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease but genetic testing reveals that the expected genotype is not present (phenocopy). The aim of this study was to evaluate the spectrum and frequency of phenocopies identified by using exome sequencing in a cohort of patients...

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PMID: 32359821
DOI: 10.1053/j.ajkd.2019.12.008

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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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