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Article

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

Brain : a journal of neurology - 1 Jul 2020

Kim Artem, Le Douce Jérôme, Diab Farah, Ferovova Monika, Dubourg Christèle, Odent Sylvie, Dupé Valérie, David Véronique, Diambra Luis, Watrin Erwan, de Tayrac Marie

Abstract excerpt

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, we explore the functional impact of sSNVs in the Sonic Hedgehog (SHH) gene, identified in patients affected by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32542401
DOI: 10.1093/brain/awaa152

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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