Article

Global Analysis of Human mRNA Folding Disruptions in Synonymous Variants Demonstrates Significant Population Constraint

2019-07-24

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> In most organisms the structure of an mRNA molecule is crucial in determining speed of translation, half-life, splicing propensities and final protein configuration. Synonymous variants which distort this wildtype mRNA structure may be pathogenic as a consequence. However, current clinical guidelines classify synonymous or “silent” single nucleotide variants (sSNVs) as large...

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Literature Corpus work: 6a912a4a-58cf-5180-a476-ee4936c90508
DOI: 10.1101/712679

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