Varaico: Literature-Extracted Genetic Variants

Gene:VLDLR
Variant:p.R747L
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VLDLR

NM_003383.5:p.R747L

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

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

Schlotawa L et al.

Journal of Neurology, 2013

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