Associated Papers
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
Micalizzi A et al.
Neurogenetics, 2016
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