HIGHLIGHTS
- who: Phenotypes et al. from the Nagoya City University Graduate performed to elucidate disease aetiology have published the paper: Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome, in the Journal: (JOURNAL) of 20/04/2022
- what: The authors report three new patients with biallelic Dr Department of Pediatrics and Neonatology VPS35L variants. The authors sought to understand the clinical features of patients with VPS35L variants, and to uncover the molecular dysfunction in VPS35L and the Retriever complex that leads to human disorders. analysed using Gaussian approximation curves (LipoSEARCH, Skylight Biotech, Akita, Japan . . .
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