From Wikidoc - Reading time: 1 min
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WikiDoc Resources for Exinct |
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Media |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on Exinct at Clinical Trials.gov Clinical Trials on Exinct at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on Exinct
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Directions to Hospitals Treating Exinct Risk calculators and risk factors for Exinct
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Healthcare Provider Resources |
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Continuing Medical Education (CME) |
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International |
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Business |
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Experimental / Informatics |
Exinct stands for extended inhibitory context. It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene [1] [2] [3]. Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein. In fact, Exinct causes aberrant splicing of exon 7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. Inability of SMN2 to make the full-length protein causes spinal muscular atropy (SMA), a debalitating disease of children and infant [4].