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Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene

Mendelian DisorderDisease MechanismGenetic DisorderGeneticsPathogenesisVariable Phenotypic ExpressionPathologyMolecular GeneticsSara2 GeneDisease Gene IdentificationGenomicsMedicineChylomicron Retention DiseaseClinical Genetics