Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Giulia Fasano(Bambino Gesù Children's Hospital), Marco Tartaglia(Bambino Gesù Children's Hospital)
Cited by 20
Related Papers
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
|Nature Genetics|2009|417
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
|Human Mutation|2015|82
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes
|International Journal of Molecular Sciences|2023|4