Résultats de la recherche

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Membrane trafficking in the yeast Saccharomyces cerevisiae model
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

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