Varaico: Literature-Extracted Genetic Variants

Gene:UBIAD1
Variant:p.D118N
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UBIAD1

NM_013319.3:p.D118N

Associated Papers

Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.

Jiang SY et al.

Plos Genetics, 2019

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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."