Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.R46L
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MTTP

NM_001386140.1:p.R46L

Associated Papers

Bulky hydrophobic side chains in the β1-sandwich of microsomal triglyceride transfer protein are critical for the transfer of both triglycerides and phospholipids.

Anaganti N et al.

The Journal of Biological Chemistry, 2024

38325741 (PubMed )
Supplement: mmc1.xlsx › Table-1

Beyond LDL: What Role for PCSK9 in Triglyceride-Rich Lipoprotein Metabolism?

Dijk W et al.

Trends in Endocrinology and Metabolism: Tem, 2018

Proprotein Convertase Subtilisin-Kexin type-9 (PCSK9) and triglyceride-rich lipoprotein metabolism: Facts and gaps.

Baragetti A et al.

Pharmacological Research, 2018

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Calandra S et al.

Journal of Lipid Research, 2011

Molecular biology of PCSK9: its role in LDL metabolism.

Horton JD et al.

Trends in Biochemical Sciences, 2007

Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.

Gutiérrez-Cirlos C et al.

Annals of Hepatology, 0

[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].

Martínez L et al.

Gaceta Medica De Mexico, 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."