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
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.
Kruer MC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
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