Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc
Shana Verschuere, Nastassia Navassiolava, Ludovic Martin, Pasi I. Nevalainen, Paul Coucke, Olivier Vanakker
Topics & Concepts
Missense mutationPseudoxanthoma elasticumMedical geneticsMedicineGeneticsPhenotypeDiseaseBioinformaticsPathologyGeneBiologyDermatological and Skeletal DisordersSkin and Cellular Biology ResearchConnective tissue disorders research