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Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy

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Published in:Application of Clinical Genetics
Format: Online Article RSS Article
Published: 2025
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container_title Application of Clinical Genetics
description
discipline_display Medical Geneticsx
discipline_facet Medical Geneticsx
format Online Article
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genre Journal Article
id rss_article:62486
institution FRELIP
journal_source_facet Application of Clinical Genetics
publishDate 2025
publishDateSort 2025
record_format rss_article
spellingShingle Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
Medical Geneticsx
General
Medical Geneticsx
sub_discipline_display General
sub_discipline_facet General
subject_display Medical Geneticsx
General
Medical Geneticsx
Medical Geneticsx
General
Medical Geneticsx
subject_facet Medical Geneticsx
General
Medical Geneticsx
title Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_auth Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_full Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_fullStr Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_full_unstemmed Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_short Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
title_sort stepwise diagnostic strategy integrating long-read sequencing for the interpretation of phenotype-genotype discordance in dystrophinopathy
topic Medical Geneticsx
General
Medical Geneticsx
url https://www.dovepress.com/stepwise-diagnostic-strategy-integrating-long-read-sequencing-for-the--peer-reviewed-fulltext-article-TACG