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Description

COL3A1 testing identified the Glu682Lys variant (identical pathogenic variant to family 1 and family 4), which was subsequently identified in the father (IV.1) and another daughter (V.3)

In: Siegel GJ, ed

Plagman A, Hoscheidt S, McLimans KE et al (2019) Cholecystokinin and Alzheimers disease: a biomarker of metabolic function, neural integrity, and cognitive performance