Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.D273Y
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NPC1L1

NM_001101648.2:p.D273Y

Associated Papers

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Barboza-Cerda MC et al.

Molecular Genetics & Genomic Medicine, 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."