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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1L1

Variant:p.N387S

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NPC1L1

NM_001101648.2:p.N387S

hg38:chr7:44539237 T>C

Associated Papers

Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment.

Simon JS et al.

Genomics, 2005

16297596 (PubMed )

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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."