Article

Heterozygous missense variant in <i>GLI2</i> impairs human endocrine pancreas development

2023-11-05

Abstract excerpt

<h4>SUMMARY</h4> Missense variants are the most common type of coding genetic variants. Their functional assessment is fundamental for defining any implication in human diseases and may also uncover genes that are essential for human organ development. Here, we applied CRISPR-Cas9 gene editing on human iPSCs to study a heterozygous missense variant in GLI2 identified in a paediatric hyperglycaemic patient and fa...

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Literature Corpus work: b43cd526-fbce-5555-bfe5-13d658701bbb
DOI: 10.1101/2023.11.05.565673

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Heterozygous missense variant in <i>GLI2</i> impairs human endocrine pancreas developmentDOI 10.1101/2023.11.05.565673Read

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