Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia
Published 2020 View Full Article
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Title
Loss-of-Function
CREB3L3
Variants in Patients With Severe Hypertriglyceridemia
Authors
Keywords
-
Journal
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
Volume 40, Issue 8, Pages 1935-1941
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2020-06-25
DOI
10.1161/atvbaha.120.314168
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- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Chylomicronaemia—current diagnosis and future therapies
- (2015) Amanda J. Brahm et al. Nature Reviews Endocrinology
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- (2015) Alison B. Kohan Current Opinion in Endocrinology Diabetes and Obesity
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- (2014) C. Maglio et al. JOURNAL OF INTERNAL MEDICINE
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