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Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13111917
Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report…
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Keywords:
dcdc2 related;
related ciliopathy;
disease;
novel dcdc2 ... See more keywords