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Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective.

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2021

Bolz Hanno Jörn

Abstract excerpt

Over the past decade, novel high-throughput DNA sequencing technologies have revolutionised both research and diagnostic testing for monogenic disorders. This applies particularly to genetically very heterogeneous disorders like retinal dystrophies (RDs). Next-generation sequencing (NGS) today is considered as reliable as Sanger sequencing, which had been the gold standard for decades. Today, comprehensive...

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PMID: 33784789
DOI: 10.1055/a-1386-5361

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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