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Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
Megan C. Fischer, Linda M. Reis, Jerica Lenberg, Karin Writzl, Barbara Golob, Borut Peterlin
Izvirni znanstveni članek
Oznake: QSER1;PRR12;loss of function;neurodevelopmental disorder;Axenfeld-Rieger anomaly;zebrafish;
Human development is a complex process that requires precise control of gene expression through regulatory proteins. Recently, heterozygous variants in PRR12, encoding a proline-rich regulatory protein, were found to cause a variable phenotype involving developmental delay/cognitive impairment, neur ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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