A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

“…In this section, we showcase the main objectives of the funded projects, highlight examples of validation projects in different models and provide links to recent publications related to some of these projects 11 – 14 (Table 1 and Supplementary Information detailing six specific use cases). All projects aim to functionally validate a gene with respect to the given pathology (Table 1 ).…”