Publications:

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

Journal Of Lipid Research

Auclair, Nickolas N; Sané, Alain T AT; Ahmarani, Lena L; Patey, Nathalie N; Beaulieu, Jean-François JF; Peretti, Noel N; Spahis, Schohraya S; Levy, Emile E

Publication Date: 2021-05-05

Variant appearance in text: SAR1B: G11D

PubMed Link: 33964306

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SAR1B: G11D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: SARA2: 32G>A

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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

Orphanet Journal Of Rare Diseases

Peretti, Noel N; Sassolas, Agnès A; Roy, Claude C CC; Deslandres, Colette C; Charcosset, Mathilde M; Castagnetti, Justine J; Pugnet-Chardon, Laurence L; Moulin, Philippe P; Labarge, Sylvie S; Bouthillier, Lise L; Lachaux, Alain A; Levy, Emile E; , ; ,

Publication Date: 2010-09-29

Variant appearance in text: SAR1B: 32G>A

PubMed Link: 20920215

Variant Present in the following documents:

• Main text
• 1750-1172-5-24.pdf

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