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
Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.
Kizhakkedath P et al.
Febs Open Bio, 2019
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Boycott KM et al.
Journal of Child Neurology, 2009
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