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Updated: Jun 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on

Emir Zonic1, Mariana Ferreira1, Luba M Pardo1

  • 1CENTOGENE GmbH, Rostock, Germany.

Genetics in Medicine Open
|December 13, 2024
PubMed
Abstract

Keywords:
Gene classificationGene curationGene-disease associationGene-disease relationshipGene-validity

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