Varaico: Literature-Extracted Genetic Variants

Gene:VLDLR
Variant:p.P274S
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VLDLR

NM_003383.5:p.P274S

Associated Papers

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."