Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatri...
Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
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London: Nature Publishing Group UK
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Language
English
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London: Nature Publishing Group UK
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Inherited and developmental eye diseases are quite diverse and numerous, and determining their genetic cause is challenging due to their high allelic and locus heterogeneity. New molecular approaches, such as whole exome sequencing (WES), have proven to be powerful molecular tools for addressing these cases. The present study used WES to identify t...
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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
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TN_cdi_doaj_primary_oai_doaj_org_article_9bc4b80918754f4e9caadfb4afd42cdf
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9bc4b80918754f4e9caadfb4afd42cdf
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-65227-6
