Heterozygous missense variant in GLI2 impairs human endocrine pancreas development

Abstract 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 apply CRISPR-Cas9 gene editing on human iPSCs...

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Bibliographic Details
Main Authors: Laura M. Mueller, Abigail Isaacson, Heather Wilson, Anna Salowka, Isabel Tay, Maolian Gong, Nancy Samir Elbarbary, Klemens Raile, Francesca M. Spagnoli
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-46740-8