Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L3
Variant:p.E240K
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CREB3L3

NM_032607.3:p.E240K

Associated Papers

Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

41099101 (PubMed )
Supplement: atv-45-2264-s001.pdf

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The transcription factors CREBH, PPARa, and FOXO1 as critical hepatic mediators of diet-induced metabolic dysregulation.

Yang Z et al.

The Journal of Nutritional Biochemistry, 2021

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

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.

Cefalù AB et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2015

The transcription factor cyclic AMP-responsive element-binding protein H regulates triglyceride metabolism.

Lee JH et al.

Nature Medicine, 2011

Hypertriglyceridemia-induced acute pancreatitis in pregnancy associated with CREB3L3 mutation.

Gurevitz C et al.

Journal of Clinical Lipidology, 0

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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."