Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein

Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and protein translation remains to be elucidated in clinical context. Here, w...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2020-07, Vol.143 (7), p.2027-2038
Hauptverfasser:	Kim, Artem, Le Douce, Jérôme, Diab, Farah, Ferovova, Monika, Dubourg, Christèle, Odent, Sylvie, Dupé, Valérie, David, Véronique, Diambra, Luis, Watrin, Erwan, de Tayrac, Marie
Format:	Artikel
Sprache:	eng
Schlagworte:	Codon Usage - genetics Hedgehog Proteins - genetics Holoprosencephaly - genetics Humans Life Sciences Polymorphism, Single Nucleotide Protein Biosynthesis - genetics
Online-Zugang:	Volltext
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