Varaico: Literature-Extracted Genetic Variants

Gene:SAR1B
Variant:p.S179I
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SAR1B

NM_016103.4:p.S179I

Associated Papers

Sar1b mutant mice recapitulate gastrointestinal abnormalities associated with chylomicron retention disease.

Auclair N et al.

Journal of Lipid Research, 2021

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers.

Peretti N et al.

Orphanet Journal of Rare Diseases, 2010

Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein.

Charcosset M et al.

Molecular Genetics and Metabolism, 2008

The intracellular transport of chylomicrons requires the small GTPase, Sar1b.

Shoulders CC et al.

Current Opinion in Lipidology, 2004

Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.

Jones B et al.

Nature Genetics, 2003

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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."