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4 At one time, these earlier named diagnoses were thought to represent distinct entities, but subsequent studies finding broad overlap of these older named conditions within families demonstrated that they were the same entity

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Substitution of lysine with glutamic acid at residue 167 of TM6SF2, which reduces the protein production by at least 2-fold, decreased the VLDL secretion by 50%

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[DOI] [PMC free article] [PubMed] [Google Scholar] 158.Chandra P.K., Panner Selvam M.K., Castorena-Gonzalez J.A., Rutkai I., Sikka S.C., Mostany R., Busija D.W