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Inbar Kobal on Muck Rack

Inbar Kobal

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Articles

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

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By Adina Fuchs, Shay Porat, Inbar Kobal, Dov Popper
| Wiley Online Library Verified
1 Introduction Single-nucleotide variants (SNVs) in the mRNA coding region are typically classified as missense, nonsense, or synonymous. While synonymous variants do not change the encoded amino acid, they may disrupt splicing sites or regulatory motifs, leading to aberrant splicing [1].
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