Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.Q167*
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NPC1L1

NM_001101648.2:p.Q167*

Associated Papers

Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Ghouse J et al.

Journal of the American Heart Association, 2022

35703387 (PubMed )
Supplement: JAH3-11-e025361-s001.pdf

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Stitziel NO et al.

The New England Journal of Medicine, 2014

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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."