Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E et al.
Brain : a Journal of Neurology, 2021
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Diaz J et al.
Brain : a Journal of Neurology, 2020
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