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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1L1

Variant:p.K879_D880Splc

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NPC1L1

NM_001101648.2:p.K879_D880Splc

hg38:chr7:44522326 C>T

Associated Papers

Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe.

Wang J et al.

Clinical Genetics, 2005

15679830 (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."