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Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing.

Genetic testing and molecular biomarkers - 1 Nov 2019

Pope Marita Knudsen, Ratajska Aleksandra, Johnsen Hilde, Rypdal Karoline Bjarnesdatter, Sejersted Yngve, Paus Benedicte

Abstract excerpt

Aims: This quality analysis study was designed to review the indications, reports, and clinical consequences of 438 diagnostic next-generation sequencing (NGS) gene panel analyses for hereditary connective tissue disorders (HCTD). Methods: Molecular analyses were retrieved from laboratory databases and patient records, and compared to the clinical information in the requisition and classified according to the...

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PMID: 31638417
DOI: 10.1089/gtmb.2019.0064

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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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