Varaico: Literature-Extracted Genetic Variants

Gene:SAR1B
Variant:p.D48delFs
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SAR1B

NM_016103.4:p.D48delFs

Associated Papers

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

Auclair N et al.

Journal of Lipid Research, 2021

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Georges A et al.

Orphanet Journal of Rare Diseases, 2011

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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."