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Article

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

PloS one - 1 Jan 2021

Babić Božović Ivana, Maver Aleš, Leonardis Lea, Meznaric Marija, Osredkar Damjan, Peterlin Borut

Abstract excerpt

BACKGROUND: Our aim was to present the experience of systematic, routine use of next generation sequencing (NGS) in clinical diagnostics of myopathies. METHODS: Exome sequencing was performed on patients with high risk for inherited myopathy, which were selected based on the history of the disease, family history, clinical presentation, and diagnostic workup. Exome target capture was performed, followed by...

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Identifiers

PMID: 34106991
DOI: 10.1371/journal.pone.0252953
PMCID: PMC8189452

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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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