A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection methods. The giant nebulin gene is expressed in skeletal muscle. It harbors a large segmental duplicat...
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Full title
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
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TN_cdi_plos_journals_2686249537
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2686249537
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0267793
