Abstract:Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestation and low prevalence. There is a lack of specific treatments and only a few hundred of the approximately 7.000 RDs have an approved regime. Rapid technological development in genome sequencing enables the mass identification of potential candidates that in their mutated form could trigger diseases but are often not confirmed to be causal. Knockout (KO) mouse models are essential to understand the causality of genes… Show more
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