Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.D207N
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STAP1

NM_012108.4:p.D207N

Associated Papers

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Totoń-Żurańska J et al.

Polish Archives of Internal Medicine, 2023

Mice lacking global Stap1 expression do not manifest hypercholesterolemia.

Kanuri B et al.

Bmc Medical Genetics, 2020

Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Loaiza N et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Genes Potentially Associated with Familial Hypercholesterolemia.

Mikhailova S et al.

Biomolecules, 2019

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Danyel M et al.

Scientific Reports, 2019

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW et al.

Circulation Research, 2014

Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia.

Mohebi R 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."